Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a

Description

Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.

Clinical Features

Phenotypes and symptoms related to Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a

  • Meningioma
  • Lisch nodules
  • Bilateral vestibular Schwannoma
  • Paraspinal neurofibromas
  • Few cafe-au-lait spots
  • Palmar neurofibromas

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
6 %
Genes
25 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
6 %
Genes
25 %
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
2 %
Genes
25 %
Neurofibromatosis Type 2 (NF2) Duplication/Deletion Test.

By Athena Diagnostics Inc in United States.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis Type 2 (NF2) Evaluation.

By Athena Diagnostics Inc in United States.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis Type 2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

NF2
Specificity
100 %
Genes
25 %
NGS RASopathy Panel.

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

A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
50 %
Neurofibromatosis Syndrome 2.

By Center for Human Genetics, Inc in United States.

NF2
Specificity
100 %
Genes
25 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
50 %
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
50 %
NEUROFIBROMATOSIS, TYPE II; NF2.

By Human Genetics Ruhr University in Germany.

NF2
Specificity
100 %
Genes
25 %
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
5 %
Genes
50 %
Hereditary Cancer Panel - Neuro17.

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

NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
6 %
Genes
25 %
Neurofibromatosis Type 2.

By Genetic Pathology SA Pathology in Australia.

NF2
Specificity
100 %
Genes
25 %
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
8 %
Genes
50 %
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
4 %
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
3 %
Genes
50 %
NF2 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type 2.

By Human Genetics University Hospital Bern in Switzerland.

NF2
Specificity
100 %
Genes
25 %
NF2. MLPA testing.

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

NF2
Specificity
100 %
Genes
25 %
NF2. Complete sequencing.

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

NF2
Specificity
100 %
Genes
25 %
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
2 %
Genes
50 %
Hereditary Brain Tumor Panel.

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

SMARCB1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
50 %
Neurofibromatosis type 2 (deletion/duplication analysis of NF2 gene).

By CGC Genetics in Portugal.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type 2 (sequence analysis of NF2 gene).

By CGC Genetics in Portugal.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes).

By CGC Genetics in Portugal.

SMARCB1, NF1, NF2
Specificity
67 %
Genes
50 %
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
3 %
Genes
25 %
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
3 %
Genes
50 %
Neurofibromatosis Type 2 (NF2) Comprehensive Testing from Biopsy Specimen.

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

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing.

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

NF2
Specificity
100 %
Genes
25 %
Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1).

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

SMARCB1, LZTR1, NF2
Specificity
100 %
Genes
75 %
Peripheral Nerve Sheath Tumor NGS panel.

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

SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS
Specificity
50 %
Genes
75 %
Schwannomatosis/ Multiple Schwannomas NGS Panel.

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

SMARCB1, LZTR1, NF2
Specificity
100 %
Genes
75 %
Meningiomatosis/ Multiple Meningioma NGS Panel.

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

SMARCB1, SMARCE1, SUFU, NF2
Specificity
50 %
Genes
50 %
Neurofibromatosis Type 2 via NF2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NF2
Specificity
100 %
Genes
25 %
Noonan spectrum disorder Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
50 %
Noonan spectrum disorder Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
50 %
Neurofibromatosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
25 %
Neurofibromatosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
25 %
Noonan spectrum disorder NGS panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
50 %
Neurofibromatosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
25 %
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 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
2 %
Genes
50 %
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
3 %
Genes
50 %
Neurofibromatosis type II.

By Centogene AG - the Rare Disease Company in Germany.

NF2
Specificity
100 %
Genes
25 %
Meningioma, NF2-related, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type II.

By Centogene AG - the Rare Disease Company in Germany.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type 2.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

NF2
Specificity
100 %
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
3 %
Genes
25 %
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
10 %
Genes
75 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Single gene testing NF2.

By CeGaT GmbH in Germany.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type II, NF2.

By GGA - Galil Genetic Analysis in Israel.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis 2 (NF2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NF2
Specificity
100 %
Genes
25 %
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
3 %
Genes
50 %
Deafness, GJB2 sequencing.

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

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis 2, NF2 Sequencing.

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

NF2
Specificity
100 %
Genes
25 %
Neurocutaneous Panel.

By Molecular Vision Laboratory in United States.

KIT, SPRED1, NF1, NF2, TSC1, TSC2, VHL
Specificity
15 %
Genes
25 %
Neurofibromatosis II.

By Praxis fuer Humangenetik Wien in Austria.

NF2
Specificity
100 %
Genes
25 %
Schwannomatosis.

By Praxis fuer Humangenetik Wien in Austria.

NF2
Specificity
100 %
Genes
25 %
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene.

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

SMARCB1, LZTR1, NF2
Specificity
100 %
Genes
75 %
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene.

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

SMARCB1, LZTR1, NF2
Specificity
100 %
Genes
75 %
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
25 %
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
25 %
Neurofibromatosis II.

By MedGene in Slovakia.

NF2
Specificity
100 %
Genes
25 %
Schwannomatosis.

By MedGene in Slovakia.

NF2
Specificity
100 %
Genes
25 %
Invitae Neurofibromatosis Type 2 Test.

By Invitae in United States.

NF2
Specificity
100 %
Genes
25 %
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
3 %
Genes
50 %
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
8 %
Genes
50 %
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
9 %
Genes
50 %
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
5 %
Genes
50 %
Neurofibromatosis type II: NF2 gene sequence analysis.

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

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis type II: NF2 deletions-duplications analysis (MLPA).

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

NF2
Specificity
100 %
Genes
25 %
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
4 %
Genes
50 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
7 %
Genes
25 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL
Specificity
7 %
Genes
25 %
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
4 %
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
2 %
Genes
50 %
Neurofibromatosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SPRED1, NF1, NF2
Specificity
34 %
Genes
25 %
NF2.

By Fulgent Genetics Fulgent Genetics in United States.

NF2
Specificity
100 %
Genes
25 %
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
8 %
Genes
50 %
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
2 %
Genes
50 %
N-FIBRON.

By PentaCoreLab in Hungary.

NF1, NF2
Specificity
50 %
Genes
25 %
Neurofibromatosis Panel.

By Blueprint Genetics in Finland.

KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1
Specificity
25 %
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
5 %
Genes
75 %
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
75 %
Cataract Panel.

By Blueprint Genetics in Finland.

ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
Neurofibromatosis type 2.

By Bioarray in Spain.

NF2
Specificity
100 %
Genes
25 %
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
2 %
Genes
50 %
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
5 %
Genes
50 %
Neurofibromatosis NGS and Deletion/Duplication Panel.

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

SPRED1, NF1, NF2
Specificity
34 %
Genes
25 %
NF2 Gene Sequencing and Deletion/Duplication Analysis.

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

NF2
Specificity
100 %
Genes
25 %
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
1 %
Genes
25 %
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
1 %
Genes
25 %
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
1 %
Genes
50 %
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
1 %
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
1 %
Genes
50 %
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
2 %
Genes
50 %
NEUROFIBROMATOSIS TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis Type 2 , Sequencing NF2 Gene.

By Reference Laboratory Genetics in Spain.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis Type 2 , Deletions-Duplications (MLPA) NF2 Gene.

By Reference Laboratory Genetics in Spain.

NF2
Specificity
100 %
Genes
25 %
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
3 %
Genes
50 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PDGFB, SMARCB1, SMARCE1, LZTR1, SUFU, NF2, PTEN
Specificity
43 %
Genes
75 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN
Specificity
17 %
Genes
25 %
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes.

By Reference Laboratory Genetics in Spain.

SPRED1, NF1, NF2
Specificity
34 %
Genes
25 %
Neurofibromatosis, type 2.

By Labor Dr. Wisplinghoff in Germany.

NF2
Specificity
100 %
Genes
25 %
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
6 %
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
3 %
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
4 %
Genes
50 %
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
1 %
Genes
75 %
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 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
7 %
Genes
25 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL
Specificity
7 %
Genes
25 %
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
2 %
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
4 %
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
4 %
Genes
50 %
Neurofibromatosis 2: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF2
Specificity
100 %
Genes
25 %
Neurofibromatosis 2: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF2
Specificity
100 %
Genes
25 %
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
25 %
Noonan Syndrome 11-Gene Sequencing Panel.

By Center for Human Genetics, Inc in United States.

LZTR1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, KRAS, BRAF, RAF1
Specificity
10 %
Genes
25 %
Rasopathy NextGen Panel.

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

PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
LZTR1. Complete sequencing.

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

LZTR1
Specificity
100 %
Genes
25 %
Schwannomatosis (sequence analysis of LZTR1 gene).

By CGC Genetics in Portugal.

LZTR1
Specificity
100 %
Genes
25 %
Schwannomatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMARCB1, LZTR1
Specificity
100 %
Genes
50 %
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Noonan Syndrome via the LZTR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

LZTR1
Specificity
100 %
Genes
25 %
Noonan syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
25 %
Noonan syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
25 %
Noonan syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
25 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1 , (...)

View the complete list with 45 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
50 %
Noonan syndrome - different panels.

By Institute of Human Genetics Cologne University in Germany.

A2ML1, RRAS, RASA2, LZTR1, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
8 %
Genes
25 %
LZTR1.

By MGZ Medical Genetics Center in Germany.

LZTR1
Specificity
100 %
Genes
25 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
25 %
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
50 %
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
50 %
Noonan syndrome type 10.

By Centogene AG - the Rare Disease Company in Germany.

LZTR1
Specificity
100 %
Genes
25 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
25 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
25 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
25 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
25 %
RASopathies Panel.

By Health in Code in Spain.

A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
25 %
RASOPATHY-RELATED SYNDROME.

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

A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
25 %
NOONAN SYNDROME.

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

A2ML1, RRAS, RASA2, LZTR1, NF1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
7 %
Genes
25 %
LZTR1.

By Fulgent Genetics Fulgent Genetics in United States.

LZTR1
Specificity
100 %
Genes
25 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
25 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
25 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
25 %
Noonan Syndrome Panel.

By Blueprint Genetics in Finland.

PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
Schwannomatosis, Sequencing LZTR1 Gene.

By Reference Laboratory Genetics in Spain.

LZTR1
Specificity
100 %
Genes
25 %
Schwannomatosis, Deletions-Duplications (MLPA) LZTR1 Gene.

By Reference Laboratory Genetics in Spain.

LZTR1
Specificity
100 %
Genes
25 %
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 %
Coenzyme Q10 deficiency (NGS panel for 8 genes).

By CGC Genetics in Portugal.

APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
13 %
Genes
25 %
Coenzyme Q10 deficiency, primary, 6.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COQ6
Specificity
100 %
Genes
25 %
Coenzyme Q10 deficiency, primary, 6.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COQ6
Specificity
100 %
Genes
25 %
Congenital abnormalities of the kidney and urinary tract.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COQ6
Specificity
100 %
Genes
25 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAGE3, OSGEP, TP53RK, TPRKB, LAMA5, KANK1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
25 %
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COQ4, COQ8B, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
9 %
Genes
25 %
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COQ6
Specificity
100 %
Genes
25 %
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
1 %
Genes
25 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Coenzyme Q10 deficiency.

By Institute of Human Genetics Cologne University in Germany.

COQ8B, COQ2, COQ6, PDSS2
Specificity
25 %
Genes
25 %
CoQ10 Deficiency.

By MGZ Medical Genetics Center in Germany.

ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
10 %
Genes
25 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
25 %
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
25 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic.

By MGZ Medical Genetics Center in Germany.

TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
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
1 %
Genes
25 %
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
1 %
Genes
25 %
Coenzyme Q Deficiency Panel.

By CeGaT GmbH in Germany.

APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
13 %
Genes
25 %
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
1 %
Genes
25 %
Focal Segmental Glomerulosclerosis Panel.

By CeGaT GmbH in Germany.

ALDH1A2, NXF5, ARHGAP24, ANLN, MYO1E, WDR73, CRB2, APOL1, CD2AP, TRPC6, ACTN4, INF2, PAX2, COQ6
Specificity
8 %
Genes
25 %
Coenzyme Q Deficiency Panel.

By CeGaT GmbH in Germany.

APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
13 %
Genes
25 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
25 %
NEPHROTIC SYNDROME.

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

PTPRO, ARHGDIA, MYO1E, STS, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, MPV17, COQ6, WT1
Specificity
7 %
Genes
25 %
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
25 %
COQ6.

By Fulgent Genetics Fulgent Genetics in United States.

COQ6
Specificity
100 %
Genes
25 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
25 %
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
25 %
Coenzyme q10 Deficiency Panel.

By Blueprint Genetics in Finland.

SLC25A26, COQ5, COQ7, COQ4, ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
7 %
Genes
25 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

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

ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

PTPRO, ARHGDIA, MYO1E, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, COQ6, WT1
Specificity
8 %
Genes
25 %
Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

COQ4, ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
9 %
Genes
25 %
Primary Coenzyme Q10 Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COQ7, COQ4, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9
Specificity
13 %
Genes
25 %
Coffin-Siris Syndrome Panel.

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

SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, HELLS, SMARCE1, ARID2, ARID1B, ADNP, PHF6, ANKRD11, PIGV, KMT2D, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
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
25 %
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
25 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
25 %
Coffin-Siris syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
25 %
Coffin-Siris syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
25 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, AFF4, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
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
25 %
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
25 %
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
25 %
SMARCB1. Complete sequencing.

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

SMARCB1
Specificity
100 %
Genes
25 %
SMARCB1. MLPA testing.

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

SMARCB1
Specificity
100 %
Genes
25 %
SMARCB1. Complete sequencing.

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

SMARCB1
Specificity
100 %
Genes
25 %
INI1/SMARCB1.

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

SMARCB1
Specificity
100 %
Genes
25 %
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
5 %
Genes
25 %
Rhabdoid tumor syndrome (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
25 %
Rhabdoid tumor syndrome (deletion/duplication analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
25 %
Coffin-Siris syndrome (NGS panel of 5 genes).

By CGC Genetics in Portugal.

ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B
Specificity
20 %
Genes
25 %
Schwannomatosis (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
25 %
Schwannomatosis (sequence analysis of SMARCB1 gene).

By CGC Genetics in Portugal.

SMARCB1
Specificity
100 %
Genes
25 %
SMARCB1 Sequencing and Deletion/Duplication on Blood.

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

SMARCB1
Specificity
100 %
Genes
25 %
Rhabdoid Tumor Predisposition NGS Panel.

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

SMARCB1
Specificity
100 %
Genes
25 %
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
4 %
Genes
25 %
Rhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMARCB1
Specificity
100 %
Genes
25 %
Coffin-Siris Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B
Specificity
17 %
Genes
25 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Coffin-Siris syndrome.

By Institute of Human Genetics Cologne University in Germany.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, PHF6
Specificity
17 %
Genes
25 %
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS).

By MGZ Medical Genetics Center in Germany.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B, PHF6
Specificity
15 %
Genes
25 %
Schwannomatosis.

By MGZ Medical Genetics Center in Germany.

SMARCB1
Specificity
100 %
Genes
25 %
SMARCB1-Related Coffin-Siris Syndrome.

By MGZ Medical Genetics Center in Germany.

SMARCB1
Specificity
100 %
Genes
25 %
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
7 %
Genes
25 %
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
1 %
Genes
25 %
Gastrointestinal Stromal Tumor.

By MGZ Medical Genetics Center in Germany.

KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2
Specificity
10 %
Genes
25 %
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
2 %
Genes
25 %
Rhabdoid tumors, somatic.

By Centogene AG - the Rare Disease Company in Germany.

SMARCB1
Specificity
100 %
Genes
25 %
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
25 %
Mental retardation, autosomal dominant type 15.

By Centogene AG - the Rare Disease Company in Germany.

SMARCB1
Specificity
100 %
Genes
25 %
Invitae Rhabdoid Tumor Predisposition Syndrome Panel.

By Invitae in United States.

SMARCB1, SMARCA4
Specificity
50 %
Genes
25 %
Invitae Schwannomatosis Test.

By Invitae in United States.

SMARCB1
Specificity
100 %
Genes
25 %
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
5 %
Genes
25 %
Schwannomatosis 1, susceptibility to: SMARCB1 gene sequence analysis.

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

SMARCB1
Specificity
100 %
Genes
25 %
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
25 %
COFFIN-SIRIS SYNDROME.

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

ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B
Specificity
20 %
Genes
25 %
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
2 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
5 %
Genes
25 %
SMARCB1.

By Fulgent Genetics Fulgent Genetics in United States.

SMARCB1
Specificity
100 %
Genes
25 %
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
4 %
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
2 %
Genes
25 %
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
3 %
Genes
25 %
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
4 %
Genes
25 %
Neurofibromatosis type 3.

By Bioarray in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
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
2 %
Genes
25 %
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
2 %
Genes
25 %
RABDOID TUMOR.

By Laboratorio de Genetica Clinica SL in Spain.

SMARCB1, SMARCA4
Specificity
50 %
Genes
25 %
SMARCB1 sanger sequencing and Del/Dup.

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

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

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
Schwannomatosis, Sequencing SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
Rhabdoid Tumor Predisposition Syndrome , Sequencing SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
Coffin-Siris Syndrome , Deletions-Duplications (MLPA) SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
Schwannomatosis, Deletions-Duplications (MLPA) SMARCB1 Gene.

By Reference Laboratory Genetics in Spain.

SMARCB1
Specificity
100 %
Genes
25 %
Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B
Specificity
20 %
Genes
25 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
25 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
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
4 %
Genes
25 %
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
5 %
Genes
25 %
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
5 %
Genes
25 %
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
3 %
Genes
25 %

Alternate names

Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a Is also known as neurofibromatosis, type iii, of riccardi, nf iii;nf3, neurofibromatosis, type iii, riccardi type;nf3; neurilemmomatosis; schwannomatosis.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TIETZ ALBINISM-DEAFNESS SYNDROME; TADS MARFAN SYNDROME; MFS MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD LYMPHEDEMA, HEREDITARY, IC; LMPH1C

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