Cowden Syndrome 1; Cws1

Description

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS ) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008).Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden SyndromeAlso see Cowden syndrome-2 (CWS2 ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; CWS3 (OMIM ), caused by mutation in the SDHD gene (OMIM ) on chromosome 11q23; CWS4 (OMIM ), caused by hypermethylation of the promoter of the KLLN gene (OMIM ), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (OMIM ), caused by mutation in the PIK3CA gene (OMIM ) on chromosome 3q26; CWS6 (OMIM ), caused by mutation in the AKT1 gene (OMIM ) on chromosome 14q32; and CWS7 (OMIM ), caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11.

Clinical Features

Top most frequent phenotypes and symptoms related to Cowden Syndrome 1; Cws1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Micrognathia
  • Failure to thrive
And another 111 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Cowden Syndrome 1; Cws1 have a estimated prevalence of 0.5 per 100k worldwide.


Mendelian

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Cowden Syndrome 1; Cws1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
25 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

CDC73, PRKAR1A, MAX, SDHD, TSHR, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
27 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...)

View the complete list with 41 more genes
Specificity
7 %
Genes
50 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
38 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

MITF, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
22 %
Genes
50 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL
Specificity
31 %
Genes
50 %
Hereditary Gastric Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

PDGFRA, KIT, CTNNA1, SMAD4, BMPR1A, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
16 %
Genes
38 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...)

View the complete list with 34 more genes
Specificity
8 %
Genes
50 %
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
27 %
Genes
50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SDHC
Specificity
100 %
Genes
13 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
38 %
Renal Cancer Panel.

By GeneDx in United States.

BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
23 %
Genes
50 %
Hereditary Cancer Panel - Renal19.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
22 %
Genes
50 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
24 %
Genes
50 %
CustomNext: Cancer.

By Ambry Genetics in United States.

NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...)

View the complete list with 48 more genes
Specificity
6 %
Genes
50 %
RenalNext.

By Ambry Genetics in United States.

BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
23 %
Genes
50 %
SDHD, SDHB, SDHC. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Hereditary Paraganglioma/Pheochromocytoma - SDHB, SDHC, SDHD Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Hereditary Paraganglioma/Pheochromocytoma PGL3 - SDHC Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHC
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma/Paraganglioma Panel - SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127 Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MAX, SDHD, TMEM127, SDHB, SDHC, SDHAF2
Specificity
50 %
Genes
38 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
25 %
Genes
38 %
Hereditary Endocrine Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CDKN1B, CDC73, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
27 %
Genes
50 %
Hereditary Kidney Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
20 %
Genes
50 %
Paragangliomas 3 (sequence analysis of SDHC gene).

By CGC Genetics in Portugal.

SDHC
Specificity
100 %
Genes
13 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
19 %
Genes
38 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene.

By PreventionGenetics PreventionGenetics in United States.

SDHC
Specificity
100 %
Genes
13 %
Endocrine tumours.

By Institute of Human Genetics Cologne University in Germany.

CDKN1B, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Hereditary Renal Cancer panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

MET, FLCN, SDHD, SDHA, SDHB, FH, SDHC
Specificity
43 %
Genes
38 %
Gastrointestinal Stromal Tumor – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

KIT, NF1, PRKAR1A, SDHD, SDHB, SDHC
Specificity
50 %
Genes
38 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
38 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...)

View the complete list with 166 more genes
Specificity
2 %
Genes
38 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2 , (...)

View the complete list with 148 more genes
Specificity
2 %
Genes
38 %
Complex II Defect.

By MGZ Medical Genetics Center in Germany.

SDHD, SDHA, SDHAF1, ISCU, SDHB, SDHC, SDHAF2
Specificity
43 %
Genes
38 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4 , (...)

View the complete list with 111 more genes
Specificity
3 %
Genes
38 %
Gastrointestinal Stromal Tumor.

By MGZ Medical Genetics Center in Germany.

KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2
Specificity
28 %
Genes
38 %
Breast Cancer.

By MGZ Medical Genetics Center in Germany.

CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1 , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
50 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)

View the complete list with 192 more genes
Specificity
2 %
Genes
38 %
Thyroid Cancer.

By MGZ Medical Genetics Center in Germany.

DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC
Specificity
31 %
Genes
50 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...)

View the complete list with 160 more genes
Specificity
2 %
Genes
38 %
Pheochromocytoma and Paraganglioma Panel.

By CeGaT GmbH in Germany.

CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
24 %
Genes
38 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...)

View the complete list with 263 more genes
Specificity
2 %
Genes
38 %
SDHC.

By Innovagenomics Innovagenomics S.L in Spain.

SDHC
Specificity
100 %
Genes
13 %
Inherited Cancer Screen.

By Counsyl in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...)

View the complete list with 16 more genes
Specificity
9 %
Genes
38 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...)

View the complete list with 25 more genes
Specificity
9 %
Genes
50 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...)

View the complete list with 22 more genes
Specificity
10 %
Genes
50 %
Invitae Gastric Cancer Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHA, SDHB, SDHC, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
17 %
Genes
38 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)

View the complete list with 60 more genes
Specificity
5 %
Genes
50 %
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SDHD, SDHA, SDHB, SDHC
Specificity
43 %
Genes
38 %
ONCOLOGY, PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)

View the complete list with 60 more genes
Specificity
5 %
Genes
50 %
Mitochondrial respiratory chain complex II, III, and IV deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SCO1, COX10, COX4I1, SDHD, SDHA, TACO1, COX6B1, FASTKD2, SDHAF1, SURF1, COX15, SCO2, CYCS, SDHB, COX4I2, TTC19, SDHC, SDHAF2, BCS1L, UQCRB , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
38 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
7 %
Genes
50 %
Endocrine Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MXD1, AIP, CDKN1B, CDC73, PRKAR1A, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
27 %
Genes
50 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
8 %
Genes
50 %
Paraganglioma-Pheochromocytomas NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
25 %
Genes
38 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
38 %
Paraganglioma-Pheochromocytoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
50 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...)

View the complete list with 14 more genes
Specificity
12 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
3 %
Genes
50 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...)

View the complete list with 19 more genes
Specificity
11 %
Genes
50 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
2 %
Genes
75 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)

View the complete list with 53 more genes
Specificity
10 %
Genes
88 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
2 %
Genes
75 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
2 %
Genes
75 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHC Gene.

By Reference Laboratory Genetics in Spain.

SDHC
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1 , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
38 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
2 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
75 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SDHD, SDHA, SDHB, SDHC
Specificity
75 %
Genes
38 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)

View the complete list with 123 more genes
Specificity
5 %
Genes
75 %
Endocrine Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AIP, CDKN1B, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
27 %
Genes
50 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
7 %
Genes
50 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
8 %
Genes
50 %
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

GPC3, MET, FLCN, SDHD, CDKN1C, SDHA, SDHB, FH, SDHC, SDHAF2, WT1, PTEN, VHL
Specificity
31 %
Genes
50 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
34 %
Genes
38 %
Paragangliomas 3.

By Center for Human Genetics, Inc in United States.

SDHC
Specificity
100 %
Genes
13 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, COX7A1, NDUFS5, SDHD, SDHA, PDHX, TACO1, COX6B1, FASTKD2, LRPPRC, DLAT, NDUFAF5, NDUFS2, NDUFS6 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
38 %
Hereditary Paraganglioma.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SDHC
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago in United States.

EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
22 %
Genes
38 %
Hereditary Phaeochromocytoma/Paraganglioma Syndromes (MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL).

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

MAX, SDHD, TMEM127, SDHB, SDHC, SDHAF2, VHL
Specificity
43 %
Genes
38 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...)

View the complete list with 27 more genes
Specificity
9 %
Genes
50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
25 %
Genes
50 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel.

By GeneDx in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
25 %
Genes
38 %
SDHC Gene Sequencing.

By GeneDx in United States.

SDHC
Specificity
100 %
Genes
13 %
CancerNext-Expanded.

By Ambry Genetics in United States.

HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...)

View the complete list with 44 more genes
Specificity
7 %
Genes
50 %
PGLNext.

By Ambry Genetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
25 %
Genes
38 %
SDHB, SDHD, SDHC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
SDHC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SDHC
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma/Pheochromocytoma - SDHB, SDHC, SDHD Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Hereditary Paraganglioma/Pheochromocytoma PGL3 - SDHC Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHC
Specificity
100 %
Genes
13 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...)

View the complete list with 86 more genes
Specificity
4 %
Genes
50 %
Paragangliomas 1,3 and 4 (deletion/duplication analysis of SDHD, SDHC and SDHB genes).

By CGC Genetics in Portugal.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...)

View the complete list with 28 more genes
Specificity
9 %
Genes
50 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
5 %
Genes
50 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
19 %
Genes
38 %
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

SDHC
Specificity
100 %
Genes
13 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1 , (...)

View the complete list with 5 more genes
Specificity
16 %
Genes
50 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
25 %
Genes
38 %
Hypertension.

By Institute of Human Genetics Cologne University in Germany.

PDE3A, WNK4, CUL3, KLHL3, NR3C2, KCNJ5, SCNN1G, SCNN1A, HSD11B2, WNK1, SDHD, SDHA, CYP17A1, SDHB, SDHC, SDHAF2
Specificity
19 %
Genes
38 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH , (...)

View the complete list with 10 more genes
Specificity
14 %
Genes
50 %
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By MGZ Medical Genetics Center in Germany.

SDHC
Specificity
100 %
Genes
13 %
Leigh Syndrome.

By MGZ Medical Genetics Center in Germany.

SCO1, COX10, SLC19A3, SDHD, SDHA, MTFMT, TACO1, LRPPRC, SDHAF1, SURF1, COX15, PDHA1, SCO2, SDHB, TTC19, COX14, SDHC, SDHAF2, C12orf65, BCS1L , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
38 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)

View the complete list with 80 more genes
Specificity
4 %
Genes
50 %
Renal Cancer.

By MGZ Medical Genetics Center in Germany.

BAP1, SMARCB1, CHEK2, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, VHL
Specificity
25 %
Genes
50 %
Thyroid Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

SDHD, SDHB, SDHC, RET, PTEN
Specificity
80 %
Genes
50 %
Pheochromozytoma-Paraganglioma syndrome.

By MGZ Medical Genetics Center in Germany.

NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Pheochromocytoma type 3.

By Centogene AG - the Rare Disease Company in Germany.

SDHC
Specificity
100 %
Genes
13 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN , (...)

View the complete list with 12 more genes
Specificity
19 %
Genes
75 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
50 %
Paraganglioma, SDHC.

By GGA - Galil Genetic Analysis in Israel.

SDHC
Specificity
100 %
Genes
13 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
5 %
Genes
50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, SDHD).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

SDHD, SDHB, SDHC, VHL
Specificity
75 %
Genes
38 %
Invitae Sarcoma Panel.

By Invitae in United States.

DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
38 %
Invitae Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
38 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel.

By Invitae in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
30 %
Genes
38 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...)

View the complete list with 28 more genes
Specificity
9 %
Genes
50 %
Paraganglioma-pheochromocytoma syndrome , Hereditary: SDHB, SDHC and SDHD genes sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SDHD, SDHB, SDHC
Specificity
100 %
Genes
38 %
Paraganglioma-pheochromocytoma 3 (PGL3) syndrome , Hereditary -SDHC gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SDHC
Specificity
100 %
Genes
13 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Mitochondrial Diseases: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SCO1, COX10, NDUFV3, NDUFA8, COX4I1, NDUFS5, SDHD, TACO1, COX6B1, FASTKD2, LRPPRC, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
38 %
Pheochromocytoma-Paraganglioma: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAX, SDHD, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
38 %
Genes
38 %
Endocrine Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
31 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)

View the complete list with 92 more genes
Specificity
4 %
Genes
50 %
Kidney Renal Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
22 %
Genes
50 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
50 %
SDHC.

By Fulgent Genetics Fulgent Genetics in United States.

SDHC
Specificity
100 %
Genes
13 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)

View the complete list with 104 more genes
Specificity
4 %
Genes
50 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...)

View the complete list with 51 more genes
Specificity
6 %
Genes
50 %
Hereditary Paraganglioma-Pheochromocytoma Panel.

By Blueprint Genetics in Finland.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
28 %
Genes
38 %
Hereditary Renal Cancer Panel.

By Blueprint Genetics in Finland.

REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN , (...)

View the complete list with 6 more genes
Specificity
16 %
Genes
50 %
Hereditary pheochromocytoma-paraganglioma type 3.

By Bioarray in Spain.

SDHC
Specificity
100 %
Genes
13 %
PHEOCHROMOCYTOMA-PARAGANGLIOMA.

By Laboratorio de Genetica Clinica SL in Spain.

MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
34 %
Genes
38 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 3, Sequencing SDHC/PGL3Gene.

By Reference Laboratory Genetics in Spain.

SDHC
Specificity
100 %
Genes
13 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)

View the complete list with 70 more genes
Specificity
5 %
Genes
50 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...)

View the complete list with 15 more genes
Specificity
12 %
Genes
50 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)

View the complete list with 63 more genes
Specificity
5 %
Genes
50 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)

View the complete list with 33 more genes
Specificity
8 %
Genes
50 %
Renal Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
50 %
Renal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
50 %
Endocrine Cancer: gene deletion/duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
31 %
Genes
50 %
Pheochromocytoma-Paraganglioma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
34 %
Genes
38 %
Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
34 %
Genes
38 %
Pheochromocytoma Evaluation.

By Athena Diagnostics Inc in United States.

SDHB, RET, VHL
Specificity
34 %
Genes
13 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
25 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SDHB
Specificity
100 %
Genes
13 %
SDHB Gene Sequencing.

By GeneDx in United States.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma/Pheochromocytoma PGL4 - SDHB Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma/Pheochromocytoma PGL4 - SDHB Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHB
Specificity
100 %
Genes
13 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene.

By PreventionGenetics PreventionGenetics in United States.

SDHB
Specificity
100 %
Genes
13 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
13 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7 , (...)

View the complete list with 154 more genes
Specificity
2 %
Genes
25 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
38 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By MGZ Medical Genetics Center in Germany.

SDHB
Specificity
100 %
Genes
13 %
Paragangliomas type 4.

By Centogene AG - the Rare Disease Company in Germany.

SDHB
Specificity
100 %
Genes
13 %
Pheochromocytoma type 2.

By Centogene AG - the Rare Disease Company in Germany.

SDHB
Specificity
100 %
Genes
13 %
Single gene testing SDHB.

By CeGaT GmbH in Germany.

SDHB
Specificity
100 %
Genes
13 %
Paraganglioma, SDHB.

By GGA - Galil Genetic Analysis in Israel.

SDHB
Specificity
100 %
Genes
13 %
Thyroid Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC
Specificity
30 %
Genes
38 %
Renal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, SDHB, FH, WT1, PTEN, VHL
Specificity
28 %
Genes
38 %
Thyroid Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH
Specificity
30 %
Genes
38 %
Succinate Dehydrogenase Complex.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" in Argentina.

SDHD, SDHB
Specificity
100 %
Genes
25 %
SDHB Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SDHB
Specificity
100 %
Genes
13 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
38 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
38 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4, Sequencing SDHB/PGL4Gene.

By Reference Laboratory Genetics in Spain.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHB Gene.

By Reference Laboratory Genetics in Spain.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
38 %
SDHB-related Hereditary Paraganglioma-Pheochromacytoma Syndrome: SDHB Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SDHB
Specificity
100 %
Genes
13 %
SDHB DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SDHB
Specificity
100 %
Genes
13 %
Paragangliomas 4.

By Center for Human Genetics, Inc in United States.

SDHB
Specificity
100 %
Genes
13 %
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DICER1, SRGAP1, WRN, AKT1, PIK3CA, PRKAR1A, CHEK2, SDHD, SDHB, RET, TP53, PTEN, APC
Specificity
39 %
Genes
63 %
Hereditary Cancer Panel Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

POLE, GREM1, POLD1, CTNNA1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, SDHB, TP53 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
25 %
SDHB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SDHB
Specificity
100 %
Genes
13 %
Paragangliomas 4 (sequence analysis of SDHB gene).

By CGC Genetics in Portugal.

SDHB
Specificity
100 %
Genes
13 %
Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SDHD, SDHA, SDHAF1, SDHB
Specificity
50 %
Genes
25 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...)

View the complete list with 25 more genes
Specificity
12 %
Genes
63 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes, SDHB sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

SDHB
Specificity
100 %
Genes
13 %
Paraganglioma-pheochromocytoma 4 (PGL4) syndrome , Hereditary: SDHB gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SDHB
Specificity
100 %
Genes
13 %
SDHB-Related Hereditary Paraganglioma-Pheochromacytoma Syndrome: SDHB Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SDHB
Specificity
100 %
Genes
13 %
SDHB.

By Fulgent Genetics Fulgent Genetics in United States.

SDHB
Specificity
100 %
Genes
13 %
Hereditary pheochromocytoma-paraganglioma type 4.

By Bioarray in Spain.

SDHB
Specificity
100 %
Genes
13 %
Cowden Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

AKT1, PIK3CA, SDHD, SDHB, PTEN
Specificity
100 %
Genes
63 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

AKT1, AKT3, PIK3R2, GNA11, GNAQ, AKT2, PIK3CA, MTOR
Specificity
25 %
Genes
25 %
AKT1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

AKT1
Specificity
100 %
Genes
13 %
Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene).

By CGC Genetics in Portugal.

AKT1
Specificity
100 %
Genes
13 %
Cowden syndrome 6 (sequence analysis of AKT1 gene).

By CGC Genetics in Portugal.

AKT1
Specificity
100 %
Genes
13 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...)

View the complete list with 22 more genes
Specificity
8 %
Genes
38 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
38 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
38 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
2 %
Genes
38 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
4 %
Genes
38 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
38 %
Cowden disease.

By Centogene AG - the Rare Disease Company in Germany.

AKT1
Specificity
100 %
Genes
13 %
AKT1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

AKT1
Specificity
100 %
Genes
13 %
AKT1.

By Fulgent Genetics Fulgent Genetics in United States.

AKT1
Specificity
100 %
Genes
13 %
Onco microarray for CLL.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BCL3, FGF2, MYB, MYBL1, BCL10, BCL11A, MYC, BCL6, BCL2, CCND1, ITK, AKT1, IGH, ATM, ALK, TP53
Specificity
7 %
Genes
13 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
25 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
25 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
38 %
Somatic Overgrowth Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

SMO, AKT1, AKT3, PIK3R2, GNA11, IDH1, GNAQ, AKT2, PIK3CA, MTOR, RASA1, TSC1, TSC2, IDH2, PTEN
Specificity
20 %
Genes
38 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
3 %
Genes
38 %
Head & Neck Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...)

View the complete list with 21 more genes
Specificity
8 %
Genes
38 %
Thoracic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
13 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
38 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

AKT1
Specificity
100 %
Genes
13 %
Circulo Lung.

By Circulogene Theranostics in United States.

AKT1
Specificity
100 %
Genes
13 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
3 %
Genes
38 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
13 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
38 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...)

View the complete list with 24 more genes
Specificity
7 %
Genes
38 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
7 %
Genes
38 %
Segmental Overgrowth Disorders - NGS panel (8 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

AKT1, AKT3, PIK3R2, PIK3CA, MTOR, TSC1, TSC2, PTEN
Specificity
38 %
Genes
38 %
Proteus Syndrome (sequence analysis of AKT1 gene).

By CGC Genetics in Portugal.

AKT1
Specificity
100 %
Genes
13 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
38 %
Megalencephaly.

By MGZ Medical Genetics Center in Germany.

CCND2, AKT1, AKT3, PIK3R2, PIK3CA, TSC1, TSC2, PTEN
Specificity
38 %
Genes
38 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...)

View the complete list with 42 more genes
Specificity
5 %
Genes
38 %
Invitae Proteus Syndrome Test.

By Invitae in United States.

AKT1
Specificity
100 %
Genes
13 %
Proteus Syndrome: AKT1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AKT1
Specificity
100 %
Genes
13 %
Proteus syndrome, somatic: AKT1 gene mutation analysis (p.Glu17Lys).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AKT1
Specificity
100 %
Genes
13 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
25 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN , (...)

View the complete list with 72 more genes
Specificity
3 %
Genes
25 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
38 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
7 %
Genes
38 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...)

View the complete list with 18 more genes
Specificity
8 %
Genes
38 %
Breast Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...)

View the complete list with 22 more genes
Specificity
8 %
Genes
38 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...)

View the complete list with 24 more genes
Specificity
7 %
Genes
38 %
Gynecologic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
38 %
AKT1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

AKT1
Specificity
100 %
Genes
13 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
5 %
Genes
38 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
6 %
Genes
38 %
Circulo Breast.

By Circulogene Theranostics in United States.

AKT1
Specificity
100 %
Genes
13 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
25 %
Proteus Syndrome, Sequencing AKT1 Gene.

By Reference Laboratory Genetics in Spain.

AKT1
Specificity
100 %
Genes
13 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2 , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
38 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
25 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1 , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
38 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
38 %
Proteus Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AKT1
Specificity
100 %
Genes
13 %
KLLN.

By Fulgent Genetics Fulgent Genetics in United States.

KLLN
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SDHD
Specificity
100 %
Genes
13 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
13 %
SDHD Gene Sequencing.

By GeneDx in United States.

SDHD
Specificity
100 %
Genes
13 %
SDHD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma/Pheochromocytoma PGL1 - SDHD Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHD
Specificity
100 %
Genes
13 %
Paragangliomas 1 (sequence analysis of SDHD gene).

By CGC Genetics in Portugal.

SDHD
Specificity
100 %
Genes
13 %
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

SDHD
Specificity
100 %
Genes
13 %
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

By MGZ Medical Genetics Center in Germany.

SDHD
Specificity
100 %
Genes
13 %
Single gene testing SDHD.

By CeGaT GmbH in Germany.

SDHD
Specificity
100 %
Genes
13 %
Paraganglioma, SDHD.

By GGA - Galil Genetic Analysis in Israel.

SDHD
Specificity
100 %
Genes
13 %
Paraganglioma-pheochromocytoma 1 (PGL1) syndrome , Hereditary: SDHD gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SDHD
Specificity
100 %
Genes
13 %
SDHD.

By Fulgent Genetics Fulgent Genetics in United States.

SDHD
Specificity
100 %
Genes
13 %
SDHD Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SDHD
Specificity
100 %
Genes
13 %
Paragangliomas 1.

By Center for Human Genetics, Inc in United States.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma/Pheochromocytoma PGL1 - SDHD Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via SDHD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SDHD
Specificity
100 %
Genes
13 %
Pheochromocytoma type 4.

By Centogene AG - the Rare Disease Company in Germany.

SDHD
Specificity
100 %
Genes
13 %
SDHD.

By Innovagenomics Innovagenomics S.L in Spain.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes, SDHD sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

SDHD
Specificity
100 %
Genes
13 %
Hereditary pheochromocytoma-paraganglioma type 1.

By Bioarray in Spain.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 1, Sequencing SDHD/PGL1Gene.

By Reference Laboratory Genetics in Spain.

SDHD
Specificity
100 %
Genes
13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHD Gene.

By Reference Laboratory Genetics in Spain.

SDHD
Specificity
100 %
Genes
13 %
PTEN Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
13 %
PTEN Sequencing Test.

By Athena Diagnostics Inc in United States.

PTEN
Specificity
100 %
Genes
13 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
13 %
PTEN related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTEN
Specificity
100 %
Genes
13 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome.

By Center for Human Genetics, Inc in United States.

PTEN
Specificity
100 %
Genes
13 %
Macrocephaly/autism syndrome.

By Center for Human Genetics, Inc in United States.

PTEN
Specificity
100 %
Genes
13 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
PTEN Related Disorders - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Related Disorders - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PTEN
Specificity
100 %
Genes
13 %
Autsim Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
13 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PIK3CA, GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, PTCH1, NSD1, PTEN
Specificity
19 %
Genes
25 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
13 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
Vistaseq Hereditary Cancer Panel Without BRCA.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
VistaSeq High/Moderate Risk Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
13 %
VistaSeq GYN Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
PTEN Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PTEN
Specificity
100 %
Genes
13 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
Colorectal Polyposis Panel.

By Genetic Services Laboratory University of Chicago in United States.

BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
9 %
Genes
13 %
Hereditary Breast and Ovarian Cancer High Risk Panel.

By Genetic Services Laboratory University of Chicago in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Comprehensive Hereditary Breast/Ovarian Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Hereditary Cancer Panel - High Penetrance 16.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
7 %
Genes
13 %
Comprehensive Cancer Panel.

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
Breast Cancer High Risk Panel and PALB2.

By GeneDx in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
13 %
Oncology High/Moderate Risk Panel.

By GeneDx in United States.

RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
Breast/Ovarian Cancer Panel.

By GeneDx in United States.

XRCC2, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
13 %
Colorectal Cancer Panel.

By GeneDx in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
Endometrial Cancer Panel.

By GeneDx in United States.

POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
13 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
13 %
Hereditary Cancer Panel - Colorectal20.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
5 %
Genes
13 %
Hereditary Cancer Panel - Breast/Ovarian17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
PTEN Hamartoma Tumur Syndrome (PHTS).

By Genetic Pathology SA Pathology in Australia.

PTEN
Specificity
100 %
Genes
13 %
AutismNext.

By Ambry Genetics in United States.

POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
13 %
BrainTumorNext.

By Ambry Genetics in United States.

DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
13 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
13 %
OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
PTEN gene sequence and deletion/duplication.

By Ambry Genetics in United States.

PTEN
Specificity
100 %
Genes
13 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
13 %
TumorNext-HRD+OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
IDNext.

By Ambry Genetics in United States.

KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
13 %
PTEN mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PTEN
Specificity
100 %
Genes
13 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ANTXR1, DOCK6, MAP3K3, KDR, GNAQ, PIK3CA, TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
25 %
PTEN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PTEN
Specificity
100 %
Genes
13 %
PTEN. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PTEN
Specificity
100 %
Genes
13 %
PTEN. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PTEN
Specificity
100 %
Genes
13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Deletion/Duplication Analaysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
Hereditary Melanoma Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

WRN, BAP1, TERT, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
Cowden Syndrome (deletion/duplication analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
13 %
Cowden syndrome (sequence analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
13 %
Colorectal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome via PTEN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Endometrial Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
13 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
13 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
13 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
13 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
13 %
Colorectal Cancer.

By MGZ Medical Genetics Center in Germany.

BUB1B, PMS1, SMAD4, BMPR1A, CHEK2, MET, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
13 %
Polyposis Coli.

By MGZ Medical Genetics Center in Germany.

SMAD4, BMPR1A, CHEK2, STK11, PTEN, MUTYH, APC
Specificity
15 %
Genes
13 %
CentoBreast (hereditary breast cancer) panel.

By Centogene AG - the Rare Disease Company in Germany.

BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
13 %
Prostate cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

HOXB13, CHEK2, NBN, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
CentoColon extended panel.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
Cowden disease.

By Centogene AG - the Rare Disease Company in Germany.

PTEN
Specificity
100 %
Genes
13 %
Autism Spectrum Disorders / Intellectual Disability.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

MECP2, PTEN
Specificity
50 %
Genes
13 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
12 %
Genes
25 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
13 %
PTEN.

By Innovagenomics Innovagenomics S.L in Spain.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome (PHTS).

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

PTEN
Specificity
100 %
Genes
13 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

EPHB4, STAMBP, RASA1, PTEN
Specificity
25 %
Genes
13 %
VATER association with macrocephaly and ventriculomegaly.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
13 %
PTEN Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

PTEN
Specificity
100 %
Genes
13 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
13 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
13 %
qCancer Mama.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
13 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
qCancer Colorrectal.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
VATER association with macrocephaly and ventriculomegaly.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
13 %
Invitae Breast Cancer Panel.

By Invitae in United States.

NF1, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
13 %
Invitae Breast Cancer Guidelines-Based Panel.

By Invitae in United States.

NF1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
Invitae Melanoma Panel.

By Invitae in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
13 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel.

By Invitae in United States.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
Invitae PTEN-Related Disorders Test.

By Invitae in United States.

PTEN
Specificity
100 %
Genes
13 %
Invitae Colorectal Cancer Guidelines-Based Panel.

By Invitae in United States.

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
13 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN
Specificity
5 %
Genes
13 %
PTEN: PTEN gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PTEN
Specificity
100 %
Genes
13 %
COLON, BREAST AND OVARIAN CANCER.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
13 %
Cowden Syndrome: PTEN Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN
Specificity
100 %
Genes
13 %
Cowden Syndrome: PTEN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN
Specificity
100 %
Genes
13 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Melanoma: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

WRN, GNAQ, PIK3CA, BAP1, KIT, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, BRAF, RB1, PTEN
Specificity
16 %
Genes
25 %
Gastrointestinal and Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
13 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FAM126A, LMNB1, HEPACAM, CSF1R, HTRA1, GFAP, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, ACOX1, ALDH3A2, DARS2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
13 %
PTEN.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN
Specificity
100 %
Genes
13 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
13 %
Breast Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
13 %
Endometrial Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
13 %
Thyroid Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
13 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Breast Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Colorectal Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MLH3, GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
PTEN Sequencing and Deletion/Duplication.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Colorectal Cancer Panel.

By Blueprint Genetics in Finland.

NTHL1, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, STK11, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
Hereditary Melanoma and Skin Cancer Panel.

By Blueprint Genetics in Finland.

DDB2, XPC, XPA, ERCC5, WRN, POT1, ERCC4, BAP1, MITF, ERCC3, ERCC2, CDKN2A, CDK4, SUFU, PTCH1, TP53, PTEN, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Hereditary Breast Cancer High Risk Panel.

By Blueprint Genetics in Finland.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
BreastTrue.

By Pathway Genomics in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
13 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Cowden syndrome.

By Bioarray in Spain.

PTEN
Specificity
100 %
Genes
13 %
Cowden syndrome.

By Bioarray in Spain.

PTEN
Specificity
100 %
Genes
13 %
PTEN Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PTEN
Specificity
100 %
Genes
13 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel.

By Veritas Genetics Veritas Genetics in United States.

ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
13 %
Circulo Breast.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
13 %
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTEN
Specificity
100 %
Genes
13 %
VATER-HYDROCEPHALUS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTEN
Specificity
100 %
Genes
13 %
Cowden Syndrome , Deletions-Duplications (MLPA) PTEN Gene.

By Reference Laboratory Genetics in Spain.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

MSH3, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
13 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
13 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PDGFB, SMARCB1, SMARCE1, LZTR1, SUFU, NF2, PTEN
Specificity
15 %
Genes
13 %
Uterine Cancer , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
17 %
Genes
13 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
13 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
13 %
Genes
25 %
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NTHL1, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
15 %
Genes
13 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

ERBB2, IDH1, EGFR, PIK3CA, LGI1, BRAF, PRKN, IDH2, RB1, TP53, PTEN, BRCA2
Specificity
17 %
Genes
25 %
genTrue.

By True Health Diagnostics in United States.

POLE, POLD1, RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Phosphorus Colorectal Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
13 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
25 %
Cowden Syndrome: PTEN Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PTEN
Specificity
100 %
Genes
13 %
Cowden Syndrome: PTEN Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PTEN
Specificity
100 %
Genes
13 %
Gastrointestinal and Colorectal Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
High Risk Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
13 %
Melanoma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WRN, BAP1, MGMT, KIT, CDKN2A, CDK4, NRAS, RB1, TP53, PTEN, BRCA1
Specificity
10 %
Genes
13 %
Melanoma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WRN, BAP1, KIT, CDKN2A, CDK4, NRAS, BRAF, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
13 %
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

PMS1, ENG, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
13 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN
Specificity
8 %
Genes
13 %
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc in United States.

CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
13 %
Cowden Disease and PTEN Hamartoma Tumor Syndrome.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Gene Characterization.

By Molecular Pathology Laboratory Ohio State University in United States.

PTEN
Specificity
100 %
Genes
13 %
Comprehensive breast cancer panel testing (10 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
Breast Cancer Predisposition, (BRCA1, BRCA2, TP53, CHEK2, PALB2, CDH1, PTEN, STK11, ATM), Mutation, Deletion/Duplication Analysis.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
PTEN sequence analysis.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States.

PTEN
Specificity
100 %
Genes
13 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
25 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
13 %
Inherited Breast Cancer.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

CHEK2, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
13 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
13 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
VistaSeq Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
VistaSeq Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
13 %
myRisk Hereditary Cancer.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
13 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

GALNT12, BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

PTEN
Specificity
100 %
Genes
13 %
PTEN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PTEN
Specificity
100 %
Genes
13 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
13 %
PTEN-Related Disorders, Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN-Related Disorders, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PTEN
Specificity
100 %
Genes
13 %
PTEN-Related Disorders, Seq and Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PTEN
Specificity
100 %
Genes
13 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN
Specificity
8 %
Genes
13 %
Breast Cancer High/Moderate Risk Panel.

By GeneDx in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
13 %
Breast Cancer High Risk Panel.

By GeneDx in United States.

CDH1, TP53, PTEN, BRCA2, BRCA1
Specificity
20 %
Genes
13 %
OncoGeneDx Custom Panel.

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
Hereditary Cancer Panel - Breast9.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
13 %
BRCAplus.

By Ambry Genetics in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
13 %
BreastNext.

By Ambry Genetics in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
ColoNext.

By Ambry Genetics in United States.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
MelanomaNext.

By Ambry Genetics in United States.

BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
13 %
Genes
13 %
TumorNext-Lynch+ColoNext.

By Ambry Genetics in United States.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
5 %
Genes
13 %
GYNplus.

By Ambry Genetics in United States.

RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
13 %
PTEN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PTEN
Specificity
100 %
Genes
13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence Analaysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PTEN
Specificity
100 %
Genes
13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Known Point Mutation Analaysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PTEN
Specificity
100 %
Genes
13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence and Del/Dup Analaysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary High-Risk Breast Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Hereditary Colorectal and Gastrointestinal Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

POLE, POLD1, KIT, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
Hereditary High-Risk Colorectal Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
13 %
Breast cancer (NGS panel for 18 genes).

By CGC Genetics in Portugal.

ERCC4, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics in Portugal.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
13 %
Genes
25 %
Proteus syndrome (sequence analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
13 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
PTEN Sequencing and Deletion/Duplication on Blood.

By Medical Genomics Laboratory Department of Genetics UAB in United States.

PTEN
Specificity
100 %
Genes
13 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
13 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL, NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Breast Cancer - High Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
13 %
Breast Cancer - High / Moderate Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
13 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
13 %
Melanoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POT1, BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
13 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN
Specificity
6 %
Genes
13 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
13 %
PTEN gene sequencing and deletion/duplicaiton analysis.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PTEN
Specificity
100 %
Genes
13 %
Breast Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
PTEN Hamartoma Tumor Syndrome (PHTS).

By MGZ Medical Genetics Center in Germany.

PTEN
Specificity
100 %
Genes
13 %
Pancreatic Cancer.

By MGZ Medical Genetics Center in Germany.

PMS1, CHEK2, CDKN2A, STK11, PALB2, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2
Specificity
10 %
Genes
13 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
13 %
Breast ovarian cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

RAD51, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MSH6
Specificity
8 %
Genes
13 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1, POLE, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, BLM, FH , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
13 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

POT1, BAP1, MITF, CDKN2A, CDK4, MC1R, RB1, PTEN
Specificity
13 %
Genes
13 %
Colon Cancer Panel.

By CeGaT GmbH in Germany.

AXIN1, RINT1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, FLCN, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
12 %
Genes
25 %
Breast and Ovarian Cancer Panel.

By CeGaT GmbH in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
Single gene testing PTEN.

By CeGaT GmbH in Germany.

PTEN
Specificity
100 %
Genes
13 %
PTEN hamartoma syndrome.

By GGA - Galil Genetic Analysis in Israel.

PTEN
Specificity
100 %
Genes
13 %
Macrocephaly/Autism Syndrome.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
13 %
Polyposis Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
17 %
Genes
13 %
Hamartoma Tumor/Cowden/Macrocephaly-autism syndromes (PTEN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

PTEN
Specificity
100 %
Genes
13 %
Cowden Disease.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
13 %
Bannayan-Riley-Ruvalcaba syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
13 %
FAMILIAL MULTIPLE MENINGIOMA.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN
Specificity
17 %
Genes
13 %
Bannayan-Riley-Ruvalcaba syndrome.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
13 %
Cowden Disease.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
13 %
Invitae Thyroid Cancer Panel.

By Invitae in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
13 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Invitae Breast Cancer STAT Panel.

By Invitae in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
Invitae Colorectal Cancer Panel.

By Invitae in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
13 %
COLON CANCER.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MSH3, PMS1, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
13 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
13 %
Macrocephaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN
Specificity
10 %
Genes
13 %
High Risk Breast Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
High Risk Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
13 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
13 %
High Risk Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
13 %
Colon Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EXO1, GALNT12, BUB1B, AXIN2, PMS1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
13 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

WRN, TERT, MITF, ERCC3, CDKN2A, CDK4, TYR, MC1R, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
13 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
13 %
Colorectal Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
13 %
Endometrial Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
13 %
GIvantage Hereditary Colon Cancer Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SMAD4, BMPR1A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
13 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
13 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

ELMO2, PIK3CA, TEK, STAMBP, GLMN, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN
Specificity
15 %
Genes
25 %
COLOTRUE™.

By Pathway Genomics in United States.

MDM2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
13 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
13 %
Focus::HERSite® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
7 %
Genes
13 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
13 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
13 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TMCO1, DIS3L2, RNF135, EZH2, NFIX, DNMT3A, SETD2, GPC3, CDKN1C, PTCH1, NSD1, PLOD1, PTEN
Specificity
8 %
Genes
13 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
13 %
Breast Cancer Panel.

By ApolloGen, Inc. in United States.

RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1
Specificity
7 %
Genes
13 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
13 %
Circulo Lung.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
13 %
Hereditary Cancer.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
13 %
COWDEN DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

BMPR1A, PTEN
Specificity
50 %
Genes
13 %
Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
13 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BAP1, TERT, MITF, CDKN2A, CDK4, MC1R, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
13 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN
Specificity
17 %
Genes
13 %
Phosphorus Breast Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
7 %
Genes
13 %
Phosphorus Ovarian/Uterine Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, SMARCA4, RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
13 %
Phosphorus Thyroid Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
13 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
13 %
High Risk Breast Cancer: Gene Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
13 %
High Risk Colorectal Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
13 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
13 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PGK1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
13 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LPIN2, C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23, ALAS2
Specificity
13 %
Genes
13 %
SEC23B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SEC23B
Specificity
100 %
Genes
13 %
SEC23B Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SEC23B
Specificity
100 %
Genes
13 %
SEC23B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SEC23B
Specificity
100 %
Genes
13 %
Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene).

By CGC Genetics in Portugal.

SEC23B
Specificity
100 %
Genes
13 %
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene.

By PreventionGenetics PreventionGenetics in United States.

SEC23B
Specificity
100 %
Genes
13 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
13 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

COG2, GMPPA, NGLY1, SSR4, TRIP11, MAN1B1, PGM3, G6PC3, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, GMPPB, CHST14, MAGT1, SEC23B, ALG13, SLC35A2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
13 %
Congenital disorder of multiple glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
13 %
Dyserythropoietic anemia, congenital.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

C15orf41, SEC23B, CDAN1, KLF1
Specificity
25 %
Genes
13 %
Congenital Disorders of Glycosylation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPN2, B3GLCT, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
13 %
SEC23B.

By Fulgent Genetics Fulgent Genetics in United States.

SEC23B
Specificity
100 %
Genes
13 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
13 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics in Finland.

GMPPA, STT3A, STT3B, NGLY1, SSR4, MAN1B1, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
13 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
13 %
Anemia Panel.

By Blueprint Genetics in Finland.

RPS29, TMPRSS6, DHFR, TF, REN, DNAJC21, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, RPL15, SLC4A1, RPS7, ERCC4, XRCC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
13 %
Congenital Dyserytrhopoietic Anemia Type II, Sequencing SEC23B Gene.

By Reference Laboratory Genetics in Spain.

SEC23B
Specificity
100 %
Genes
13 %
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LPIN2, C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23
Specificity
15 %
Genes
13 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, ABCG8, ABCG5, PGK1, SEC23B, CDAN1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TF, STEAP3, FTH1, B2M, HJV, HAMP, TFR2, SLC40A1, CP, FTL, SEC23B, CDAN1, SLC25A38, ALAS2, HFE
Specificity
7 %
Genes
13 %
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C15orf41, SEC23B, CDAN1, KLF1, GATA1
Specificity
20 %
Genes
13 %
Anemia, dyserythropoietic congenital type II.

By Centogene AG - the Rare Disease Company in Germany.

SEC23B
Specificity
100 %
Genes
13 %
NGS Panel for Congenital Dyserythropoietic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23
Specificity
17 %
Genes
13 %
Congenital Dyserythropoietic Anemia.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SEC23B, CDAN1, KLF1
Specificity
34 %
Genes
13 %
Congenital Dyserythropoietic Anemia Type II: SEC23B Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SEC23B
Specificity
100 %
Genes
13 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
13 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
13 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

STOM, HMOX1, CD59, HBD, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, FANCG, FANCA , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
13 %
Congenital dyserythropoietic anemia type 2.

By Bioarray in Spain.

SEC23B
Specificity
100 %
Genes
13 %
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

SEC23B
Specificity
100 %
Genes
13 %
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7, DPM1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
13 %
Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

SEC23B, CDAN1, KLF1, GATA1
Specificity
25 %
Genes
13 %
PIK3CA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PIK3CA
Specificity
100 %
Genes
13 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics in Portugal.

NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5
Specificity
13 %
Genes
13 %
CLOVE syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PIK3CA
Specificity
100 %
Genes
13 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
13 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
13 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
PIK3CA-Related Segmental Overgrowth (Cowden Syndrome 5): PIK3CA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PIK3CA
Specificity
100 %
Genes
13 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
13 %
Lymphatic Malformations and Related Disorders Panel.

By Blueprint Genetics in Finland.

PIK3CA, FLT4, KIF11, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, GATA2, GJC2
Specificity
10 %
Genes
13 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Circulo Lung.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Circulo Gastric.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Cowden Syndrome, Sequencing PIK3CA Gene.

By Reference Laboratory Genetics in Spain.

PIK3CA
Specificity
100 %
Genes
13 %
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome , Sequencing PIK3CA Gene.

By Reference Laboratory Genetics in Spain.

PIK3CA
Specificity
100 %
Genes
13 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
13 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
PIK3CA sequence analysis (Somatic).

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

PIK3CA
Specificity
100 %
Genes
13 %
PIK3CA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PIK3CA
Specificity
100 %
Genes
13 %
PIK3CA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PIK3CA
Specificity
100 %
Genes
13 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene).

By CGC Genetics in Portugal.

PIK3CA
Specificity
100 %
Genes
13 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics in Portugal.

NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5
Specificity
13 %
Genes
13 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene).

By CGC Genetics in Portugal.

PIK3CA
Specificity
100 %
Genes
13 %
Cowden and Cowden-like Syndromes via the PIK3CA Gene.

By PreventionGenetics PreventionGenetics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Colorectal adenocarcinoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PIK3CA, NRAS, KRAS, BRAF
Specificity
25 %
Genes
13 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
CLOVE syndrome, somatic (PIK3CA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PIK3CA
Specificity
100 %
Genes
13 %
PIK3CA.

By Fulgent Genetics Fulgent Genetics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
PIK3CA Mutation by Sequencing.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Liquid::Lung-cfDNA™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

ROS1, ERBB2, EGFR, PIK3CA, MET, ALK, NRAS, MAP2K1, KRAS, BRAF, TP53
Specificity
10 %
Genes
13 %
PIK3CA-Related Overgrowth Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Nevus Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3
Specificity
15 %
Genes
13 %
PIK3CA Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Circulo Breast.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
13 %

Alternate names

Cowden Syndrome 1; Cws1 Is also known as cs;cd, multiple hamartoma syndrome;mham;cowden disease; multiple hamartoma syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCLEOD SYNDROME; MCLDS IMMUNODEFICIENCY 51; IMD51 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 COLE-CARPENTER SYNDROME 1; CLCRP1

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