Coffin-siris Syndrome

Description

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Coffin-siris Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscular hypotonia
And another 48 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Coffin-siris Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Coffin-Siris Syndrome Panel.

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

BTD, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, KMT2D, PIGV, ANKRD11, PHF6, ADNP, ARID1B, ARID2, SMARCE1, HELLS, SOX11, KMT2A, SMARCA4, SMARCB1 , (...)

View the complete list with 2 more genes
Specificity
32 %
Genes
88 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
75 %
ARID2.

By Fulgent Genetics Fulgent Genetics in United States.

ARID2
Specificity
100 %
Genes
13 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
2 %
Genes
63 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
63 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
2 %
Genes
75 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
75 %
DPF2.

By Fulgent Genetics Fulgent Genetics in United States.

DPF2
Specificity
100 %
Genes
13 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2, EP300, WNT5A, ESCO2 , (...)

View the complete list with 1 more genes
Specificity
29 %
Genes
75 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
3 %
Genes
63 %
Coffin-Siris syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2
Specificity
55 %
Genes
75 %
Coffin-Siris syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2
Specificity
55 %
Genes
75 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2, EP300, AFF4, WNT5A , (...)

View the complete list with 2 more genes
Specificity
28 %
Genes
75 %
ARID1A. Complete sequencing.

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

ARID1A
Specificity
100 %
Genes
13 %
ARID1A. Complete sequencing.

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

ARID1A
Specificity
100 %
Genes
13 %
Coffin-Siris syndrome (sequence analysis of ARID1A gene).

By CGC Genetics in Portugal.

ARID1A
Specificity
100 %
Genes
13 %
Coffin-Siris syndrome (NGS panel of 5 genes).

By CGC Genetics in Portugal.

ARID1B, SMARCE1, SMARCA4, SMARCB1, ARID1A
Specificity
100 %
Genes
63 %
Coffin-Siris Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A
Specificity
100 %
Genes
75 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)

View the complete list with 12 more genes
Specificity
19 %
Genes
75 %
ARID1B-related Coffin-Siris Syndrome.

By Institute of Human Genetics Cologne University in Germany.

ARID1A
Specificity
100 %
Genes
13 %
Coffin-Siris syndrome.

By Institute of Human Genetics Cologne University in Germany.

PHF6, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2
Specificity
67 %
Genes
50 %
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS).

By MGZ Medical Genetics Center in Germany.

PHF6, ARID1B, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2
Specificity
72 %
Genes
63 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
2 %
Genes
63 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
2 %
Genes
63 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
2 %
Genes
63 %
Mental retardation, autosomal dominant type 14.

By Centogene AG - the Rare Disease Company in Germany.

ARID1A
Specificity
100 %
Genes
13 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
5 %
Genes
38 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
COFFIN-SIRIS SYNDROME.

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

ARID1B, SMARCE1, SMARCA4, SMARCB1, ARID1A
Specificity
100 %
Genes
63 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
2 %
Genes
50 %
ARID1A.

By Fulgent Genetics Fulgent Genetics in United States.

ARID1A
Specificity
100 %
Genes
13 %
Focus::Renal® NGS Panel.

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

VHL, PTEN, TP53, RAF1, BRAF, TSC2, TSC1, ALK, PTCH1, MET, FGFR1, SETD2, KDM5C, MTOR, ARID1A, KIT, BAP1, PIK3CA, AKT2, FLT3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
13 %
Focus::DLBCL&FL™ NGS Panel.

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

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

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.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
13 %
Schwannomatosis-1, susceptibility to.

By Bioarray in Spain.

ARID1A
Specificity
100 %
Genes
13 %
Mental retardation, autosomal dominant 14.

By Bioarray in Spain.

ARID1A
Specificity
100 %
Genes
13 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
13 %
Coffin-Siris Syndrome, Sequencing ARID1A Gene.

By Reference Laboratory Genetics in Spain.

ARID1A
Specificity
100 %
Genes
13 %
Coffin-Siris Syndrome , Deletions-Duplications (MLPA) ARID1A and ARID1B Genes.

By Reference Laboratory Genetics in Spain.

ARID1B, ARID1A
Specificity
100 %
Genes
25 %
Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ARID1B, SMARCE1, SMARCA4, SMARCB1, ARID1A
Specificity
100 %
Genes
63 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, STXBP1, TUSC3, ACSL4, SLC6A8, ARX, MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, PQBP1, TBL1XR1, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A , (...)

View the complete list with 71 more genes
Specificity
5 %
Genes
50 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, TBL1XR1, KANSL1, GRIN1, DYRK1A, SETBP1, ADNP, KIRREL3, EHMT1, ARID1B, CTNNB1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 11 more genes
Specificity
13 %
Genes
50 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, MSH2, MLH1, PTEN, TP53, RB1, CUBN, BRAF, KRAS, NRAS, CDKN2A, NF1, CTNNB1, ARID1A, KIT, PIK3CA, EGFR, PDGFRA, CBLC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
13 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
13 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
13 %
Mental retardation, autosomal dominant type 27.

By Centogene AG - the Rare Disease Company in Germany.

SOX11
Specificity
100 %
Genes
13 %
SOX11.

By Fulgent Genetics Fulgent Genetics in United States.

SOX11
Specificity
100 %
Genes
13 %
BrainTumorNext.

By Ambry Genetics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1 , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
38 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
38 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
5 %
Genes
38 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
38 %
Coffin-Siris syndrome (sequence analysis of SMARCE1 gene).

By CGC Genetics in Portugal.

SMARCE1
Specificity
100 %
Genes
13 %
Meningiomatosis/ Multiple Meningioma NGS Panel.

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

NF2, SUFU, SMARCE1, SMARCB1
Specificity
50 %
Genes
25 %
Familial Meningioma via the SMARCE1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SMARCE1
Specificity
100 %
Genes
13 %
COFFIN-SIRIS SYNDROME.

By Centogene AG - the Rare Disease Company in Germany.

SMARCE1
Specificity
100 %
Genes
13 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

PTEN, RECQL4, TP53, RB1, RET, SDHC, FH, SDHB, BLM, TSC2, TSC1, NBN, NF2, CDKN2A, SDHD, MET, CDC73, NF1, LZTR1, SPRED1 , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
38 %
FAMILIAL MULTIPLE MENINGIOMA.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

PTEN, NF2, SUFU, SMARCE1, PDGFB, MN1
Specificity
17 %
Genes
13 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
4 %
Genes
38 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
38 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
25 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 28 more genes
Specificity
7 %
Genes
38 %
SMARCE1.

By Fulgent Genetics Fulgent Genetics in United States.

SMARCE1
Specificity
100 %
Genes
13 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, HRAS, TSC2, TSC1, ALK, ATM, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
38 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
3 %
Genes
38 %
Coffin-Siris Syndrome, Sequencing SMARCE1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCE1
Specificity
100 %
Genes
13 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PTEN, NF2, SUFU, LZTR1, SMARCE1, SMARCB1, PDGFB
Specificity
29 %
Genes
25 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

PTEN, NF2, SUFU, SMARCE1, PDGFB, MN1
Specificity
17 %
Genes
13 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
38 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
4 %
Genes
38 %
SMARCA4 Sequencing.

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

SMARCA4
Specificity
100 %
Genes
13 %
SMARCA4 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA4
Specificity
100 %
Genes
13 %
SMARCA4 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA4
Specificity
100 %
Genes
13 %
CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

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

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
38 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
38 %
OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

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

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

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

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11 , (...)

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

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

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

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50 , (...)

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

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
3 %
Genes
38 %
SMARCA4. Complete sequencing.

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

SMARCA4
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.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, MEN1, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
Coffin-Siris syndrome (sequence analysis of SMARCA4 gene).

By CGC Genetics in Portugal.

SMARCA4
Specificity
100 %
Genes
13 %
Rhabdoid tumor syndrome (sequence analysis of SMARCA4 gene).

By CGC Genetics in Portugal.

SMARCA4
Specificity
100 %
Genes
13 %
Ovarian Cancer and Rhabdoid Tumor Predisposition Syndrome via the SMARCA4 Gene.

By PreventionGenetics PreventionGenetics in United States.

SMARCA4
Specificity
100 %
Genes
13 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

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

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
13 %
SMARCA4.

By MGZ Medical Genetics Center in Germany.

SMARCA4
Specificity
100 %
Genes
13 %
Mental retardation, autosomal dominant type 16.

By Centogene AG - the Rare Disease Company in Germany.

SMARCA4
Specificity
100 %
Genes
13 %
Rhabdoid tumor predisposition syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

SMARCA4
Specificity
100 %
Genes
13 %
Rhabdoid tumor predisposition syndrome 2.

By MedGene in Slovakia.

SMARCA4
Specificity
100 %
Genes
13 %
Invitae Rhabdoid Tumor Predisposition Syndrome Panel.

By Invitae in United States.

SMARCA4, SMARCB1
Specificity
100 %
Genes
25 %
Invitae Small Cell Carcinoma of the Ovary Hypercalcemic Type Test.

By Invitae in United States.

SMARCA4
Specificity
100 %
Genes
13 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, SDHA, TSC2, TSC1, ATM, NBN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
13 %
Invitae Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
25 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
3 %
Genes
25 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
25 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
SMARCA4.

By Fulgent Genetics Fulgent Genetics in United States.

SMARCA4
Specificity
100 %
Genes
13 %
Ovarian Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, MRE11, NBN, STK11, BRIP1, RAD51C, BARD1, RAD51D, SMARCA4
Specificity
6 %
Genes
13 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
25 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 51 more genes
Specificity
3 %
Genes
25 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
2 %
Genes
25 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, BLM, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

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

By Blueprint Genetics in Finland.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
25 %
Focus::MCL™ NGS Panel.

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

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Schwannomatosis-1, susceptibility to.

By Bioarray in Spain.

SMARCA4
Specificity
100 %
Genes
13 %
Solid Tumor Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
25 %
CNS Tumor Gene Set.

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

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
25 %
Thoracic Tumors Gene Set.

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

TP53, RB1, RET, BRAF, HRAS, KRAS, NRAS, RIT1, TSC2, TSC1, ALK, ATM, STK11, CDKN2A, MET, NTRK1, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
13 %
RABDOID TUMOR.

By Laboratorio de Genetica Clinica SL in Spain.

SMARCA4, SMARCB1
Specificity
100 %
Genes
25 %
Coffin-Siris Syndrome, Sequencing SMARCA4 Gene.

By Reference Laboratory Genetics in Spain.

SMARCA4
Specificity
100 %
Genes
13 %
Ovarian Small Cell Carcinoma , Sequencing SMARCA4 Gene.

By Reference Laboratory Genetics in Spain.

SMARCA4
Specificity
100 %
Genes
13 %
Phosphorus Ovarian/Uterine Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, PALB2, BRIP1, RAD51C, RAD51D, SMARCA4, DICER1
Specificity
7 %
Genes
13 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
25 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
2 %
Genes
25 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MLH1, PTEN, TP53, RB1, RET, SOX2, BRAF, KRAS, FGFR2, ALK, ATM, STK11, CDKN2A, MET, SMAD4, PKHD1, NF1, FGFR1, KMT2D , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
13 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
25 %
Syndromic Autism Panel.

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

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
13 %
AutismNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, MECP2, SLC9A6, SLC6A8, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, RAI1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
13 %
ARID1B. Complete sequencing.

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

ARID1B
Specificity
100 %
Genes
13 %
ARID1B . Complete sequencing.

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

ARID1B
Specificity
100 %
Genes
13 %
Mental retardation 12, AD (deletion/duplication analysis of ARID1B gene).

By CGC Genetics in Portugal.

ARID1B
Specificity
100 %
Genes
13 %
Coffin-Siris syndrome (sequence analysis of ARID1B gene).

By CGC Genetics in Portugal.

ARID1B
Specificity
100 %
Genes
13 %
COFFIN-SIRIS.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

ARID1B
Specificity
100 %
Genes
13 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
13 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
13 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
13 %
Mental retardation, autosomal dominant type 12.

By Centogene AG - the Rare Disease Company in Germany.

ARID1B
Specificity
100 %
Genes
13 %
ARID1B.

By Fulgent Genetics Fulgent Genetics in United States.

ARID1B
Specificity
100 %
Genes
13 %
Mental retardation, autosomal dominant 12.

By Bioarray in Spain.

ARID1B
Specificity
100 %
Genes
13 %
Schwannomatosis-1, susceptibility to.

By Bioarray in Spain.

ARID1B
Specificity
100 %
Genes
13 %
Coffin-Siris Syndrome, Sequencing ARID1B Gene.

By Reference Laboratory Genetics in Spain.

ARID1B
Specificity
100 %
Genes
13 %
Autsim Panel.

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

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
13 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, RB1, MEN1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1, SMARCB1
Specificity
6 %
Genes
13 %
SMARCB1 Sequencing.

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

SMARCB1
Specificity
100 %
Genes
13 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
13 %
SMARCB1. Complete sequencing.

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

SMARCB1
Specificity
100 %
Genes
13 %
SMARCB1. MLPA testing.

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

SMARCB1
Specificity
100 %
Genes
13 %
SMARCB1. Complete sequencing.

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

SMARCB1
Specificity
100 %
Genes
13 %
INI1/SMARCB1.

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

SMARCB1
Specificity
100 %
Genes
13 %
Hereditary Brain Tumor Panel.

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

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, SMARCB1
Specificity
6 %
Genes
13 %
Hereditary Kidney Cancer Panel.

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

VHL, MSH2, MSH6, MLH1, PTEN, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1
Specificity
5 %
Genes
13 %
Rhabdoid tumor syndrome (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
13 %
Rhabdoid tumor syndrome (deletion/duplication analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
13 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes).

By CGC Genetics in Portugal.

NF2, NF1, SMARCB1
Specificity
34 %
Genes
13 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
13 %
Schwannomatosis (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
13 %
SMARCB1 Sequencing and Deletion/Duplication on Blood.

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

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1).

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

NF2, LZTR1, SMARCB1
Specificity
34 %
Genes
13 %
Peripheral Nerve Sheath Tumor NGS panel.

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

KRAS, PTPN11, NF2, NF1, LZTR1, SMARCB1
Specificity
17 %
Genes
13 %
Schwannomatosis/ Multiple Schwannomas NGS Panel.

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

NF2, LZTR1, SMARCB1
Specificity
34 %
Genes
13 %
Rhabdoid Tumor Predisposition NGS Panel.

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

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LZTR1, SMARCB1
Specificity
50 %
Genes
13 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CHEK2, CDC73 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Rhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis.

By MGZ Medical Genetics Center in Germany.

SMARCB1
Specificity
100 %
Genes
13 %
SMARCB1-Related Coffin-Siris Syndrome.

By MGZ Medical Genetics Center in Germany.

SMARCB1
Specificity
100 %
Genes
13 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
13 %
Renal Cancer.

By MGZ Medical Genetics Center in Germany.

VHL, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, CHEK2, SMARCB1, BAP1
Specificity
7 %
Genes
13 %
Gastrointestinal Stromal Tumor.

By MGZ Medical Genetics Center in Germany.

SDHAF2, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, NF1, SMARCB1, KIT
Specificity
10 %
Genes
13 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
13 %
Rhabdoid tumors, somatic.

By Centogene AG - the Rare Disease Company in Germany.

SMARCB1
Specificity
100 %
Genes
13 %
Mental retardation, autosomal dominant type 15.

By Centogene AG - the Rare Disease Company in Germany.

SMARCB1
Specificity
100 %
Genes
13 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
13 %
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

NF2, LZTR1, SMARCB1
Specificity
34 %
Genes
13 %
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

NF2, LZTR1, SMARCB1
Specificity
34 %
Genes
13 %
Invitae Schwannomatosis Test.

By Invitae in United States.

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis 1, susceptibility to: SMARCB1 gene sequence analysis.

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

SMARCB1
Specificity
100 %
Genes
13 %
Rhabdoids, predisposition syndrome 1 / somatic turmors: SMARCB1 gene sequence analysis.

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

SMARCB1
Specificity
100 %
Genes
13 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
13 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
13 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
13 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
13 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 2 more genes
Specificity
5 %
Genes
13 %
SMARCB1.

By Fulgent Genetics Fulgent Genetics in United States.

SMARCB1
Specificity
100 %
Genes
13 %
Hemato-oncology chromosomal microarray.

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

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
13 %
Neurofibromatosis Panel.

By Blueprint Genetics in Finland.

RAF1, PTPN11, NF2, NF1, SPRED1, SMARCB1, KIT, KITLG
Specificity
13 %
Genes
13 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
13 %
Neurofibromatosis type 3.

By Bioarray in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
13 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
13 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
13 %
SMARCB1 sanger sequencing and Del/Dup.

By Children's Hospital of Los Angeles, Center for Personalized Medicine in United States.

SMARCB1
Specificity
100 %
Genes
13 %
Coffin-Siris Syndrome, Sequencing SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis, Sequencing SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Rhabdoid Tumor Predisposition Syndrome , Sequencing SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Coffin-Siris Syndrome , Deletions-Duplications (MLPA) SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Schwannomatosis, Deletions-Duplications (MLPA) SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
13 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
13 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
13 %
Renal Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
13 %
Renal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
13 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
13 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
13 %


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