NF1 gene related symptoms and diseases

All the information presented here about the NF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NF1 gene

Symptoms // Phenotype % Cases
Neurofibromas Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Multiple cafe-au-lait spots Common - Between 50% and 80% cases
Cafe-au-lait spot Common - Between 50% and 80% cases
Lisch nodules Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Macrocephaly
  • Ptosis
  • Specific learning disability
  • Intellectual disability
  • Axillary freckling
  • Hypertelorism
  • Scoliosis
  • Pulmonic stenosis

And 203 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

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Rare diseases associated to NF1 gene

Here you will find a list of rare diseases related to the NF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JUVENILE MYELOMONOCYTIC LEUKEMIA


Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

17Q11 MICRODELETION SYNDROME


Alternate names

17Q11 MICRODELETION SYNDROME Is also known as neurofibromatosis type 1 microdeletion syndrome, del(17)(q11), monosomy 17q11, nf1 microdeletion syndrome

Description

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


More info about 17Q11 MICRODELETION SYNDROME

SOURCES: ORPHANET

17Q11.2 MICRODUPLICATION SYNDROME


Alternate names

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2, nf1 microdeletion syndrome, van asperen syndrome, grisart-destrÉe syndrome, dup(17)(q11.2), neurofibromatosis 1 microdeletion syndrome

Description

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Most common symptoms of 17Q11.2 MICRODUPLICATION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about 17Q11.2 MICRODUPLICATION SYNDROME

SOURCES: ORPHANET OMIM

NEUROFIBROMATOSIS-NOONAN SYNDROME


Alternate names

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns, neurofibromatosis type 1-noonan syndrome

Description

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

SOURCES: ORPHANET

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


Alternate names

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype, noonan-neurofibromatosis syndrome

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

SOURCES: ORPHANET OMIM

WATSON SYNDROME; WTSN


Alternate names

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis, pulmonic stenosis with cafe-au-lait spots

Description

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

Most common symptoms of WATSON SYNDROME; WTSN

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Macrocephaly
  • Pulmonic stenosis


More info about WATSON SYNDROME; WTSN

SOURCES: OMIM

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Alternate names

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion, neurofibromatosis, peripheral type, von recklinghausen disease

Description

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

Most common symptoms of NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

SOURCES: ORPHANET OMIM

NEUROFIBROMATOSIS, FAMILIAL SPINAL


Alternate names

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

Description

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

Most common symptoms of NEUROFIBROMATOSIS, FAMILIAL SPINAL

  • Intellectual disability
  • Scoliosis
  • Neoplasm
  • Pain
  • Difficulty walking


More info about NEUROFIBROMATOSIS, FAMILIAL SPINAL

SOURCES: MESH OMIM


Potential gene panels for NF1 gene

Neurofibromatosis Type 1 Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 (NF1) Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NF1 gene.

More info about this panel

NGS RASopathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1

More info about this panel

Neurofibromatosis Syndrome Type 1 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis-Noonan syndrome Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis 1 Sequencing Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis 1 Deletion/Duplication analysis Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the NF1 gene.

More info about this panel

Juvenile Myelomonocytic Leukemia Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Juvenile Myelomonocytic Leukemia that also includes the following genes: CBL SETBP1 RRAS2 ASXL1 SH2B3 JAK3 KRAS NF1 NRAS PTPN11

More info about this panel

Inherited Cancer Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2

More info about this panel

VisaSeq Breast and GYN Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VisaSeq Breast and GYN Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 ABRAXAS1 PALB2 FANCC

More info about this panel

VistaSeq Breast Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 ABRAXAS1 PALB2 MRE11 MUTYH

More info about this panel

VistaSeq Brain/CNS/PNS Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Brain/CNS/PNS Cancer Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel

VistaSeq Endrocrine Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Endrocrine Cancer Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 TMEM127 MAX MEN1 NF1

More info about this panel

Neurofibromatosis1 Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the NF1 gene.

More info about this panel

Noonan Spectrum Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Noonan Spectrum Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel that also includes the following genes: BLM BRCA1 BRCA2 TP53 CBL MLH1 MSH2 MSH6 NF1 ATM

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72

More info about this panel

Hereditary Leukemia and Breast Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9

More info about this panel

Hereditary Pheochromocytoma and Paraganglioma Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 EPAS1

More info about this panel

Noonan Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Noonan Syndrome Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1

More info about this panel

Noonan Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Noonan Syndrome Deletion/Duplication Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

NF1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NF1 gene.

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Expanded RASopathy Panel (14 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Expanded RASopathy Panel (14 Genes) that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2

More info about this panel

NEUROFIBROMATOSIS, TYPE I; NF1 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the NF1 gene.

More info about this panel

Legius Syndrome (SPRED1) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Legius Syndrome (SPRED1) Sequencing that also includes the following genes: SPRED1 NF1

More info about this panel

Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 (NF1) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 (NF1) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the NF1 gene.

More info about this panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel Panel

United States.

By GeneDx PGL/PCC (Paraganglioma/Pheochromocytoma) Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1

More info about this panel

Hereditary Cancer Panel - Breast/Ovarian/Uterine28 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Breast/Ovarian/Uterine28 that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1

More info about this panel

Noonan syndrome/RASopathy Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Noonan syndrome/RASopathy Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1 HRAS

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

Hereditary Cancer Panel - Neuro17 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Neuro17 that also includes the following genes: TP53 TSC1 TSC2 VHL SUFU ALK APC MEN1 MLH1 MSH2

More info about this panel

Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 that also includes the following genes: SDHA SDHB SDHC SDHD TP53 TSC1 TSC2 VHL CDC73 SDHAF2

More info about this panel

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel

BrainTumorNext Panel

United States.

By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1

More info about this panel

BreastNext Panel

United States.

By Ambry Genetics BreastNext that also includes the following genes: BRCA1 BRCA2 TP53 CDH1 BRIP1 PALB2 MRE11 MUTYH NBN NF1

More info about this panel

CancerNext-Expanded Panel

United States.

By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

CancerNext Panel

United States.

By Ambry Genetics CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

NF1 gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the NF1 gene.

More info about this panel

OvaNext Panel

United States.

By Ambry Genetics OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

PGLNext Panel

United States.

By Ambry Genetics PGLNext that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1

More info about this panel

TumorNext-HRD+CancerNext Panel

United States.

By Ambry Genetics TumorNext-HRD+CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel

TumorNext-Lynch+CancerNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+CancerNext that also includes the following genes: BMPR1A BRAF BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1

More info about this panel

TumorNext-HRD+OvaNext Panel

United States.

By Ambry Genetics TumorNext-HRD+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

TumorNext-Lynch+OvaNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

NF1. Complete sequencing of the mRNA Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NF1 gene.

More info about this panel

NF1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NF1 gene.

More info about this panel

NF1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NF1 gene.

More info about this panel

NF1. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NF1 gene.

More info about this panel

Hereditary Breast, Ovarian, and Endometrial Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Breast, Ovarian, and Endometrial Cancer Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 WRN CDH1 BRIP1 PALB2

More info about this panel

Hereditary Paraganglioma/Pheochromocytoma Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Paraganglioma/Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Neurofibromatosis 1 Panel

Portugal.

By CGC Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type 1 (sequence analysis of NF1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type I (deletion/duplication analysis on NF1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NF1 gene.

More info about this panel

Psychomotor development delay (various syndromes, deletion/duplication analysis) Panel

Portugal.

By CGC Genetics Psychomotor development delay (various syndromes, deletion/duplication analysis) that also includes the following genes: MECP2 NF1

More info about this panel

Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes) that also includes the following genes: SMARCB1 NF1 NF2

More info about this panel

Noonan syndrome and rasopathies (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Noonan syndrome and rasopathies (NGS panel for 13 genes) that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NF1

More info about this panel

OncoRisk (NGS panel for 48 genes) Panel

Portugal.

By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH

More info about this panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH

More info about this panel

Neurofibromatosis 1 Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 (NF1) RNA Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB

This panel specifically test the NF1 gene.

More info about this panel

NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication that also includes the following genes: SPRED1 NF1

More info about this panel

Neurofibromatosis Type 1 (NF1) Next Generation Sequencing and Deletion/Duplication Analysis Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB

This panel specifically test the NF1 gene.

More info about this panel

RASopathy Next Generation Sequencing and Deletion/Duplication Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB RASopathy Next Generation Sequencing and Deletion/Duplication that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1

More info about this panel

Peripheral Nerve Sheath Tumor NGS panel Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Peripheral Nerve Sheath Tumor NGS panel that also includes the following genes: SMARCB1 KRAS LZTR1 NF1 NF2 PTPN11

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1

More info about this panel

Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 MRE11 MUTYH NBN

More info about this panel

Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPRED1 NF1

More info about this panel

Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1

More info about this panel

Neurofibromatosis Type 1 and Related Disorders via NF1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NF1 gene.

More info about this panel

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel

Hereditary Ovarian Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Ovarian Cancer Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Neurofibromatosis Type 1 and Related Disorders via MLPA of NF1 Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NF1 gene.

More info about this panel

Noonan spectrum disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan spectrum disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Neurofibromatosis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Neurofibromatosis and related disorders NGS panel that also includes the following genes: SPRED1 MLH1 MSH2 MSH6 NF1 NF2

More info about this panel

Neurofibromatosis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Neurofibromatosis and related disorders Comprehensive panel that also includes the following genes: SPRED1 MLH1 MSH2 MSH6 NF1 NF2

More info about this panel

Noonan spectrum disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Neurofibromatosis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Neurofibromatosis and related disorders Deletion / Duplication panel that also includes the following genes: SPRED1 MLH1 MSH2 MSH6 NF1 NF2

More info about this panel

Neurofibromatosis type I Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type I Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type I NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the NF1 gene.

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

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Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel

Gastrointestinal Stromal Tumor – Basic Diagnostics Panel

Germany.

By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor – Basic Diagnostics that also includes the following genes: SDHB SDHC SDHD KIT NF1 PRKAR1A

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

RASopathies Panel

Germany.

By MGZ Medical Genetics Center RASopathies that also includes the following genes: RRAS BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2

More info about this panel

Pheochromozytoma-Paraganglioma syndrome Panel

Germany.

By MGZ Medical Genetics Center Pheochromozytoma-Paraganglioma syndrome that also includes the following genes: SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1 PRKAR1A

More info about this panel

Gastrointestinal Stromal Tumor Panel

Germany.

By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor that also includes the following genes: SDHB SDHC SDHD SMARCB1 SDHAF2 TMEM127 KIT MAX MEN1 NF1

More info about this panel

Breast Cancer Panel

Germany.

By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1

More info about this panel

Neurofibromatosis 1 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis 1 Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the NF1 gene.

More info about this panel

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel

Neurofibromatosis type I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NF1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Neurofibromatosis type I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis, Type 1 Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the NF1 gene.

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Pheochromocytoma and Paraganglioma Panel Panel

Germany.

By CeGaT GmbH Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

Breast and Ovarian Cancer - extended Diagnostic Panel Panel

Germany.

By CeGaT GmbH Breast and Ovarian Cancer - extended Diagnostic Panel that also includes the following genes: SDHB SDHC SDHD BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

Single gene testing NF1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NF1 gene.

More info about this panel

Test for Neurofibromatosis 1 Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type I (von Recklinghausen`s Disease) Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the NF1 gene.

More info about this panel

NF1 Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis 1 (NF1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the NF1 gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Neurofibromatosis 1, NF1 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the NF1 gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

RASopathies Panel Panel

Spain.

By Health in Code RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SHOC2 SPRED1 A2ML1 HRAS KRAS

More info about this panel

Neurocutaneous Panel Panel

United States.

By Molecular Vision Laboratory Neurocutaneous Panel that also includes the following genes: TSC1 TSC2 VHL SPRED1 KIT NF1 NF2

More info about this panel

Neurofibromatosis panel Panel

United States.

By Molecular Vision Laboratory Neurofibromatosis panel that also includes the following genes: SPRED1 KIT NF1

More info about this panel

Neurofibromatosis I Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NF1 gene.

More info about this panel

Watson syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NF1 gene.

More info about this panel

LEGIUS SYNDROME - SPRED1 gene Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute LEGIUS SYNDROME - SPRED1 gene that also includes the following genes: SPRED1 NF1

More info about this panel

NEUROFIBROMATOSIS TYPE 1 - NF1 gene Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NEUROFIBROMATOSIS TYPE 1 - NF1 gene that also includes the following genes: SPRED1 NF1

More info about this panel

RASOPATHY-RELATED SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute RASOPATHY-RELATED SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

More info about this panel

NOONAN SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NOONAN SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS LZTR1

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qCancer Risk Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1

More info about this panel

qCancer Risk Expanded Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk Expanded that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1

More info about this panel

qCancer Gine Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Gine that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MRE11

More info about this panel

Neurofibromatosis I Panel

Slovakia.

By MedGene

This panel specifically test the NF1 gene.

More info about this panel

Watson syndrome Panel

Slovakia.

By MedGene

This panel specifically test the NF1 gene.

More info about this panel

Invitae Breast Cancer Panel Panel

United States.

By Invitae Invitae Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 NBN NF1 ATM

More info about this panel

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel

United States.

By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM

More info about this panel

Invitae Gastric Cancer Panel Panel

United States.

By Invitae Invitae Gastric Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A STK11 EPCAM TP53 CDH1 APC

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Sarcoma Panel Panel

United States.

By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Breast Cancer Guidelines-Based Panel Panel

United States.

By Invitae Invitae Breast Cancer Guidelines-Based Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 PALB2 NBN NF1 ATM PTEN

More info about this panel

Invitae Nervous System/Brain Cancer Panel Panel

United States.

By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1

More info about this panel

Invitae Breast and Gyn Cancers Guidelines-Based Panel Panel

United States.

By Invitae Invitae Breast and Gyn Cancers Guidelines-Based Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MSH2

More info about this panel

Invitae Hereditary Paraganglioma-Pheochromocytoma Panel Panel

United States.

By Invitae Invitae Hereditary Paraganglioma-Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX NF1 RET

More info about this panel

Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel Panel

United States.

By Invitae Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel that also includes the following genes: SDHA SDHB SDHC SDHD KIT NF1 PDGFRA

More info about this panel

Invitae Pediatric Nervous System/Brain Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK

More info about this panel

Invitae Pediatric Hematologic Malignancies Panel Panel

United States.

By Invitae Invitae Pediatric Hematologic Malignancies Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Invitae Myelodysplastic Syndrome/Leukemia Panel Panel

United States.

By Invitae Invitae Myelodysplastic Syndrome/Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel

Invitae Pancreatic Cancer Panel Panel

United States.

By Invitae Invitae Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

More info about this panel

Invitae Breast and Gyn Cancers Panel Panel

United States.

By Invitae Invitae Breast and Gyn Cancers Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

Invitae Neurofibromatosis Type 1 Test Panel

United States.

By Invitae

This panel specifically test the NF1 gene.

More info about this panel

Invitae RASopathies Comprehensive Panel Panel

United States.

By Invitae Invitae RASopathies Comprehensive Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

More info about this panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

United States.

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2

More info about this panel

Neurofibromatosis type I: NF1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis type I: NF1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NF1 gene.

More info about this panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2

More info about this panel

COLON, BREAST AND OVARIAN CANCER Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON, BREAST AND OVARIAN CANCER that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel

PARAGANGLIOMA-PHEOCHROMOCYTOMA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PARAGANGLIOMA-PHEOCHROMOCYTOMA that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Paraganglioma-Pheochromocytomas NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytomas NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 MAX

More info about this panel

Neurofibromatosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Neurofibromatosis NGS Panel that also includes the following genes: SPRED1 NF1 NF2

More info about this panel

NF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NF1 gene.

More info about this panel

Focus Cancer Panel - 40 Genes Panel

United States.

By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Nervous System / Brain Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1

More info about this panel

Hematologic Malignancy Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hematologic Malignancy Comprehensive Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Pancreatic Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pancreatic Cancer Comprehensive Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDK4

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Breast Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Breast Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CDH1 BRIP1 PALB2 MRE11 NBN

More info about this panel

Gastric Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Gastric Cancer Comprehensive Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC KIT SMAD4 MLH1 MSH2

More info about this panel

Sarcoma Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

More info about this panel

Paraganglioma-Pheochromocytoma Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytoma Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1

More info about this panel

MyVantage(TM) Hereditary Comprehensive Cancer Panel Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano MyVantage(TM) Hereditary Comprehensive Cancer Panel that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

NF1 Sequencing and Deletion/Duplication Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the NF1 gene.

More info about this panel

N-FIBRON Panel

Hungary.

By PentaCoreLab N-FIBRON that also includes the following genes: NF1 NF2

More info about this panel

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

More info about this panel

Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Panel

Germany.

By Institut fuer Laboratoriumsmedizin Berlin Institut für Laboratoriumsmedizin Berlin (IFLb)

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Panel Panel

Finland.

By Blueprint Genetics Neurofibromatosis Panel that also includes the following genes: SMARCB1 SPRED1 KIT KITLG NF1 NF2 PTPN11 RAF1

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Hereditary Leukemia Panel Panel

Finland.

By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Hereditary Paraganglioma-Pheochromocytoma Panel Panel

Finland.

By Blueprint Genetics Hereditary Paraganglioma-Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1

More info about this panel

Hereditary Pancreatic Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 BUB1B EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Interstitial Lung Disease Panel Panel

Finland.

By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT

More info about this panel

Hereditary Endocrine Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL WRN CDC73 DICER1 CDKN1B

More info about this panel

Hereditary Breast and Gynecological Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Breast and Gynecological Cancer Panel that also includes the following genes: BLM BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Noonan Syndrome Panel Panel

Finland.

By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Neurofibromatosis type I Panel

Spain.

By Bioarray

This panel specifically test the NF1 gene.

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

More info about this panel

CNS Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1

More info about this panel

Melanoma Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1

More info about this panel

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel

Gynecologic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1

More info about this panel

Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

More info about this panel

Thoracic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C

More info about this panel

Neurofibromatosis NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Neurofibromatosis NGS and Deletion/Duplication Panel that also includes the following genes: SPRED1 NF1 NF2

More info about this panel

NF1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the NF1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

iGene Cancer Panel Panel

United States.

By ApolloGen, Inc. iGene Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 TP53 VHL CDH1 CDKN2A BRIP1 PALB2

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Guardant360 Panel

United States.

By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

Otogenetics Hereditary Cancers Panel

United States.

By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1

More info about this panel

PHEOCHROMOCYTOMA-PARAGANGLIOMA Panel

Spain.

By Laboratorio de Genetica Clinica SL PHEOCHROMOCYTOMA-PARAGANGLIOMA that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1

More info about this panel

NEUROFIBROMATOSIS TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NF1 gene.

More info about this panel

PHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL that also includes the following genes: SDHA SDHB SDHC SDHD VHL KIF1B SDHAF2 TMEM127 EPAS1 FH

More info about this panel

NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL that also includes the following genes: SMARCB1 COQ6 SPRED1 CABIN1 LZTR1 NF1 NF2 PRKAR1A

More info about this panel

NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL A2ML1 NSUN2 KRAS LZTR1

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Neurofibromatosis Type 1 , Sequencing RNAm NF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 , Sequencing NF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis Type 1 , Deletions-Duplications (MLPA) NF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NF1 gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MSH2

More info about this panel

Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1

More info about this panel

Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CBL KRAS NF1 NRAS PTPN11

More info about this panel

Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C

More info about this panel

Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes Panel

Spain.

By Reference Laboratory Genetics Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes that also includes the following genes: SPRED1 NF1 NF2

More info about this panel

Neurofibromatosis, type 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis-Noonan syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the NF1 gene.

More info about this panel

Neurofibrometatosis type 1: NF1 gene sequencing for known mutation Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the NF1 gene.

More info about this panel

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Breast Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 NBN NF1 ATM

More info about this panel

Phosphorus Leukemia including Fanconi Anemia Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA

More info about this panel

Phosphorus Leukemia Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TINF2 TP53 CEBPA DKC1 GATA2

More info about this panel

Phosphorus Brain and Nervous System Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1

More info about this panel

Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Phosphorus Pancreatic Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

More info about this panel

CEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Ovarian cancer: Extended gene sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 ARID1A TP53 USP16 MAS1L CCNE1 CBLC KREMEN1

More info about this panel

CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel that also includes the following genes: RUNX1 BRAF TP53 ASXL1 CEBPA TET2 DNMT3A FLT3 ALK IDH1

More info about this panel

Neurofibromatosis 1: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the NF1 gene.

More info about this panel

Syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10

More info about this panel

Neurofibromatosis 1: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the NF1 gene.

More info about this panel

Neurofibromatosis I Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the NF1 gene.

More info about this panel


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