Chromosome 17q11.2 Deletion Syndrome, 1.4-mb

Description

Approximately 5 to 20% of all patients with neurofibromatosis type I (OMIM ) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 17q11.2 Deletion Syndrome, 1.4-mb

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
And another 58 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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Chromosome 17q11.2 Deletion Syndrome, 1.4-mb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Evaluation.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
100 %
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
5 %
Genes
100 %
Neurofibromatosis Syndrome Type 1.

By Center for Human Genetics, Inc in United States.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis-Noonan syndrome.

By Center for Human Genetics, Inc in United States.

NF1
Specificity
100 %
Genes
100 %
Juvenile Myelomonocytic Leukemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

SH2B3, JAK3, ASXL1, SETBP1, NF1, CBL, PTPN11, NRAS, KRAS
Specificity
12 %
Genes
100 %
Inherited Cancer Panel.

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

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

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
VistaSeq Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
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
6 %
Genes
100 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL
Specificity
8 %
Genes
100 %
Neurofibromatosis1.

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

NF1
Specificity
100 %
Genes
100 %
Noonan Spectrum Panel.

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

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CHEK2, ATM, CBL, PTPN11, BLM, TP53, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago in United States.

EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
8 %
Genes
100 %
Noonan Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
100 %
Noonan Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
NF1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NF1
Specificity
100 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Expanded RASopathy Panel (14 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
100 %
NEUROFIBROMATOSIS, TYPE I; NF1.

By Human Genetics Ruhr University in Germany.

NF1
Specificity
100 %
Genes
100 %
Legius Syndrome (SPRED1) Sequencing.

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

SPRED1, NF1
Specificity
50 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Sequencing.

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

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
100 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel.

By GeneDx in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
100 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

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

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

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

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

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

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
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
100 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17.

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

NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
6 %
Genes
100 %
BrainTumorNext.

By Ambry Genetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
BreastNext.

By Ambry Genetics in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
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
2 %
Genes
100 %
CancerNext.

By Ambry Genetics in United States.

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

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
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
2 %
Genes
100 %
NF1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

NF1
Specificity
100 %
Genes
100 %
OvaNext.

By Ambry Genetics in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
PGLNext.

By Ambry Genetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
100 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

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

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
TumorNext-HRD+OvaNext.

By Ambry Genetics in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
NF1. Complete sequencing of the mRNA.

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

NF1
Specificity
100 %
Genes
100 %
NF1. MLPA testing.

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

NF1
Specificity
100 %
Genes
100 %
NF1. Complete sequencing.

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

NF1
Specificity
100 %
Genes
100 %
NF1. NextGeneDx.Complete sequencing by NGS.

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

NF1
Specificity
100 %
Genes
100 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel.

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

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
100 %
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
1 %
Genes
100 %
Neurofibromatosis 1.

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type 1 (sequence analysis of NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type I (deletion/duplication analysis on NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
100 %
Psychomotor development delay (various syndromes, deletion/duplication analysis).

By CGC Genetics in Portugal.

NF1, MECP2
Specificity
50 %
Genes
100 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes).

By CGC Genetics in Portugal.

SMARCB1, NF1, NF2
Specificity
34 %
Genes
100 %
Noonan syndrome and rasopathies (NGS panel for 13 genes).

By CGC Genetics in Portugal.

SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
100 %
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
100 %
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
2 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
7 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
7 %
Genes
100 %
Neurofibromatosis 1.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) RNA.

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

NF1
Specificity
100 %
Genes
100 %
NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication.

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

SPRED1, NF1
Specificity
50 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Next Generation Sequencing and Deletion/Duplication Analysis.

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

NF1
Specificity
100 %
Genes
100 %
RASopathy Next Generation Sequencing and Deletion/Duplication.

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

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
100 %
Peripheral Nerve Sheath Tumor NGS panel.

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

SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS
Specificity
17 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
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
100 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL, NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPRED1, NF1
Specificity
50 %
Genes
100 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
100 %
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene.

By PreventionGenetics PreventionGenetics in United States.

NF1
Specificity
100 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A2, ITGA3, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, PARN, TERT, TERC, DKC1, NF1, RTEL1, SLC7A7, FLCN, TSC1, TSC2, TINF2, CFTR , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
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
4 %
Genes
100 %
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
4 %
Genes
100 %
Neurofibromatosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
100 %
Neurofibromatosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
100 %
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
4 %
Genes
100 %
Neurofibromatosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
100 %
Neurofibromatosis type I Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type I Comprehensive test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type I NGS test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

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

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Gastrointestinal Stromal Tumor – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

KIT, NF1, PRKAR1A, SDHD, SDHB, SDHC
Specificity
17 %
Genes
100 %
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
100 %
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
100 %
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
1 %
Genes
100 %
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
100 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
100 %
Pheochromozytoma-Paraganglioma syndrome.

By MGZ Medical Genetics Center in Germany.

NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
Gastrointestinal Stromal Tumor.

By MGZ Medical Genetics Center in Germany.

KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2
Specificity
10 %
Genes
100 %
Breast Cancer.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Neurofibromatosis 1.

By Bioscientia GmbH Center for Human Genetics in Germany.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis 1.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

NF1
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
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
100 %
Neurofibromatosis type I.

By Centogene AG - the Rare Disease Company in Germany.

NF1
Specificity
100 %
Genes
100 %
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
100 %
Neurofibromatosis type I.

By Centogene AG - the Rare Disease Company in Germany.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis, Type 1.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

NF1
Specificity
100 %
Genes
100 %
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
100 %
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
4 %
Genes
100 %
Pheochromocytoma and Paraganglioma Panel.

By CeGaT GmbH in Germany.

CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
8 %
Genes
100 %
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
100 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Single gene testing NF1.

By CeGaT GmbH in Germany.

NF1
Specificity
100 %
Genes
100 %
Test for Neurofibromatosis 1.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type I (von Recklinghausen`s Disease).

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

NF1
Specificity
100 %
Genes
100 %
NF1.

By Innovagenomics Innovagenomics S.L in Spain.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis 1 (NF1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NF1
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
Neurofibromatosis 1, NF1 sequencing.

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

NF1
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Neurocutaneous Panel.

By Molecular Vision Laboratory in United States.

KIT, SPRED1, NF1, NF2, TSC1, TSC2, VHL
Specificity
15 %
Genes
100 %
Neurofibromatosis panel.

By Molecular Vision Laboratory in United States.

KIT, SPRED1, NF1
Specificity
34 %
Genes
100 %
Neurofibromatosis I.

By Praxis fuer Humangenetik Wien in Austria.

NF1
Specificity
100 %
Genes
100 %
Watson syndrome.

By Praxis fuer Humangenetik Wien in Austria.

NF1
Specificity
100 %
Genes
100 %
LEGIUS SYNDROME - SPRED1 gene.

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

SPRED1, NF1
Specificity
50 %
Genes
100 %
NEUROFIBROMATOSIS TYPE 1 - NF1 gene.

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

SPRED1, NF1
Specificity
50 %
Genes
100 %
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
100 %
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
100 %
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
100 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Neurofibromatosis I.

By MedGene in Slovakia.

NF1
Specificity
100 %
Genes
100 %
Watson syndrome.

By MedGene in Slovakia.

NF1
Specificity
100 %
Genes
100 %
Invitae Breast Cancer Panel.

By Invitae in United States.

NF1, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

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

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Gastric Cancer Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHA, SDHB, SDHC, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Sarcoma Panel.

By Invitae in United States.

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

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
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
2 %
Genes
100 %
Invitae Breast Cancer Guidelines-Based Panel.

By Invitae in United States.

NF1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
100 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel.

By Invitae in United States.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel.

By Invitae in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SDHD, SDHA, SDHB, SDHC
Specificity
15 %
Genes
100 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

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

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
100 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
100 %
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
3 %
Genes
100 %
Invitae Pancreatic Cancer Panel.

By Invitae in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
100 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

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

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Neurofibromatosis Type 1 Test.

By Invitae in United States.

NF1
Specificity
100 %
Genes
100 %
Invitae RASopathies Comprehensive Panel.

By Invitae in United States.

A2ML1, RRAS, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
100 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN
Specificity
5 %
Genes
100 %
Neurofibromatosis type I: NF1 gene sequence analysis.

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

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis type I: NF1 gene deletions-duplications analysis (MLPA).

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

NF1
Specificity
100 %
Genes
100 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

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

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
COLON, BREAST AND OVARIAN CANCER.

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

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

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
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
1 %
Genes
100 %
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
100 %
Paraganglioma-Pheochromocytomas NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
9 %
Genes
100 %
Neurofibromatosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SPRED1, NF1, NF2
Specificity
34 %
Genes
100 %
NF1.

By Fulgent Genetics Fulgent Genetics in United States.

NF1
Specificity
100 %
Genes
100 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
100 %
Pancreatic Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
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
1 %
Genes
100 %
Breast Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Gastric Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PDGFRA, KIT, NF1, SMAD4, BMPR1A, STK11, CDH1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
100 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Paraganglioma-Pheochromocytoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

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

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

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
NF1 Sequencing and Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
100 %
N-FIBRON.

By PentaCoreLab in Hungary.

NF1, NF2
Specificity
50 %
Genes
100 %
Onco microarray for MDS/AML.

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

SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication.

By Institut fuer Laboratoriumsmedizin Berlin Institut für Laboratoriumsmedizin Berlin (IFLb) in Germany.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Panel.

By Blueprint Genetics in Finland.

KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1
Specificity
13 %
Genes
100 %
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
100 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
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
2 %
Genes
100 %
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
1 %
Genes
100 %
Hereditary Paraganglioma-Pheochromocytoma Panel.

By Blueprint Genetics in Finland.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Blueprint Genetics in Finland.

BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
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
100 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
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
100 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SLC34A2, ITGA3, SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, PARN, TERT, ELMOD2, TERC, DKC1, NF1, RTEL1, SLC7A7, TSC1, TSC2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
Neurofibromatosis type I.

By Bioarray in Spain.

NF1
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Hematopoietic Disorders Gene Set.

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

TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
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
3 %
Genes
100 %
Melanoma Gene Set.

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

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

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Genitourinary Tumors Gene Set.

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

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

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Gynecologic Tumors Gene Set.

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

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

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Head & Neck Tumors Gene Set.

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

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

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Thoracic Tumors Gene Set.

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

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

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
NF1 Gene Sequencing and Deletion/Duplication Analysis.

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

NF1
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
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
100 %
Guardant360.

By Guardant Health in United States.

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

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
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
100 %
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
100 %
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
1 %
Genes
100 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
NEUROFIBROMATOSIS TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 , Sequencing RNAm NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 , Sequencing NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 , Deletions-Duplications (MLPA) NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
100 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
100 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NF1, CBL, PTPN11, NRAS, KRAS
Specificity
20 %
Genes
100 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes.

By Reference Laboratory Genetics in Spain.

SPRED1, NF1, NF2
Specificity
34 %
Genes
100 %
Neurofibromatosis, type 1.

By Labor Dr. Wisplinghoff in Germany.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis-Noonan syndrome.

By Labor Dr. Wisplinghoff in Germany.

NF1
Specificity
100 %
Genes
100 %
Neurofibrometatosis type 1: NF1 gene sequencing for known mutation.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

NF1
Specificity
100 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Phosphorus Breast Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

TERT, TERC, DKC1, NF1, CEBPA, GATA2, NBN, ATM, TINF2, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
6 %
Genes
100 %
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
3 %
Genes
100 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel.

By Phosphorus Diagnostics LLC in United States.

CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Phosphorus Pancreatic Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

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

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

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
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
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
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
1 %
Genes
100 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MYC, IDH1, MYD88, PDGFRA, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, DNMT3A, NOTCH1, NF1, MPL, CEBPA, ALK, PTPN11, BRAF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Neurofibromatosis 1: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF1
Specificity
100 %
Genes
100 %
Syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Neurofibromatosis 1: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis I.

By Genomic Laboratory Semmelweis University in Hungary.

NF1
Specificity
100 %
Genes
100 %

Alternate names

Chromosome 17q11.2 Deletion Syndrome, 1.4-mb Is also known as neurofibromatosis 1 microdeletion syndrome, nf1 microdeletion syndrome, van asperen syndrome;dup(17)(q11.2); grisart-destrée syndrome; trisomy 17q11.2.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

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