FH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to FH gene

Symptoms // Phenotype % Cases
Cutaneous leiomyoma Common - Between 50% and 80% cases
Pruritus Uncommon - Between 30% and 50% cases
Uterine leiomyosarcoma Uncommon - Between 30% and 50% cases
Pallor Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Hematuria
  • Papillary renal cell carcinoma type 2
  • Multiple cutaneous leiomyomas
  • Cataract
  • Vaginal neoplasm
  • Barrett esophagus
  • Neoplasm
  • Uterine leiomyoma

And 127 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FH gene

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


FUMARIC ACIDURIA


Alternate names

FUMARIC ACIDURIA Is also known as fumarase deficiency

Description

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


More info about FUMARIC ACIDURIA

SOURCES: ORPHANET

ACROMESOMELIC DYSPLASIA, GREBE TYPE


Alternate names

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria, chondrodysplasia, grebe type

Description

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

Most common symptoms of ACROMESOMELIC DYSPLASIA, GREBE TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

SOURCES: ORPHANET OMIM

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER


Alternate names

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Is also known as mcul, reed syndrome, familial leiomyomatosis and renal cell cancer, familial leiomyomatosis with renal carcinoma, familial leiomyomatosis cutis et uteri, hereditary leiomyomatosis, familial multiple cutaneous leiomyomas, hereditary multiple cutaneous leiomyomas,

Description

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.

Most common symptoms of HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

  • Cataract
  • Pruritus
  • Abnormality of the musculature
  • Barrett esophagus
  • Uterine leiomyoma


More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

SOURCES: ORPHANET

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Alternate names

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl, multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma, mcul1, lrcc, leiomyoma, multiple cutaneous, leiomyomatosis and renal cell cancer, hereditary

Description

Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

Most common symptoms of HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

SOURCES: MESH OMIM

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Alternate names

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Description

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

Most common symptoms of HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

SOURCES: ORPHANET


Potential gene panels for FH gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Hereditary Renal Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Renal Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL WT1 CDKN1C SDHAF2 FLCN FH

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

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

VistaSeq Renal Cell Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Renal Cell Cancer Panel that also includes the following genes: SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL WT1 FLCN

More info about this panel

Hereditary Leiomyomatosis & renal cell cancer-HLRCC Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the FH gene.

More info about this panel

Fumarate Hydratase Deficiency Panel

United States.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation

This panel specifically test the FH gene.

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

Mutations in the fumarate hydratase gene Panel

France.

By Service de Génétique Gustave Roussy

This panel specifically test the FH gene.

More info about this panel

Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 EPCAM TP53

More info about this panel

Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD TP53 TSC1 TSC2 VHL FLCN FH MET

More info about this panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

FH Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the FH 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

Renal Cancer Panel Panel

United States.

By GeneDx Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN FH

More info about this panel

Hereditary Cancer Panel - Renal19 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Renal19 that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL CDC73

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

Hereditary Leiomyomatosis and Renal Cell Cancer Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the FH gene.

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

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

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

RenalNext Panel

United States.

By Ambry Genetics RenalNext that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

More info about this panel

FH gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the FH gene.

More info about this panel

FH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FH gene.

More info about this panel

FH. Detection of the c.1431_1433dupAAA mutation by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FH gene.

More info about this panel

FH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FH gene.

More info about this panel

FH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Carcinoma - FH Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Carcinoma - FH Deletion/Duplication Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Carcinoma - FH Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FH gene.

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

Hereditary Kidney Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73

More info about this panel

Leiomyomatosis and renal cell cancer (sequence analysis of FH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FH gene.

More info about this panel

Fumarase deficiency (sequence analysis of FH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FH gene.

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

Hereditary leiomyomatosis and renal cell cancer Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the FH gene.

More info about this panel

Fumarase deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the FH gene.

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

Renal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

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

Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via FH Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FH gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

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 gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

More info about this panel

Hereditary Renal Cancer panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Hereditary Renal Cancer panel that also includes the following genes: SDHA SDHC TP53 TSC1 TSC2 VHL FLCN FH MET MITF

More info about this panel

FH gene seqeuncing and deletion/duplication analysis Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Cancer Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FH gene.

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

Renal Cancer Panel

Germany.

By MGZ Medical Genetics Center Renal Cancer that also includes the following genes: SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1 FLCN

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Polymicrogyria Panel

Germany.

By MGZ Medical Genetics Center Polymicrogyria that also includes the following genes: TUBA8 NSDHL NDE1 CHD7 TUBA1A TUBB3 TUBB KIF1BP WDR62 GPSM2

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

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

Fumarase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FH 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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

CentoCancer panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoCancer panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A

More info about this panel

Fumarase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FH gene.

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

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Renal cell carcinoma Panel Panel

Germany.

By CeGaT GmbH Renal cell carcinoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

FH Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the FH gene.

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

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

Fumarase deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis with renal cell cancer Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FH gene.

More info about this panel

Multiple cutaneous and uterine leiomyomata Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FH gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

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

Fumarase deficiency Panel

Slovakia.

By MedGene

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis with renal cell cancer Panel

Slovakia.

By MedGene

This panel specifically test the FH gene.

More info about this panel

Multiple cutaneous and uterine leiomyomata Panel

Slovakia.

By MedGene

This panel specifically test the FH gene.

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 Renal/Urinary Tract Cancers Panel Panel

United States.

By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1

More info about this panel

Invitae Hereditary Leiomyomatosis and Renal Cell Cancer Test Panel

United States.

By Invitae

This panel specifically test the FH gene.

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 Fumarase Deficiency Test Panel

United States.

By Invitae

This panel specifically test the FH gene.

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): FH Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FH gene.

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): FH Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FH gene.

More info about this panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Renal Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Renal Cancer: Sequencing Panel that also includes the following genes: SDHB SDHD VHL WT1 CDKN1C PALB2 FLCN FH GPC3 MET

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

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

Lactic Acidosis-Pyruvate NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM

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Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

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TCA Cycle NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics TCA Cycle NGS Panel that also includes the following genes: SUCLA2 SUCLG1 ACO2 PDHX DLAT FH IDH1 IDH2 IDH3B MDH1

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Kidney Renal Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Kidney Renal Cancer NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

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Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

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Renal/Kidney NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

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FH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FH gene.

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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

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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

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

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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

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Renal / Urinary Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

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Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

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

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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

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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

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Polymicrogyria Panel Panel

Finland.

By Blueprint Genetics Polymicrogyria Panel that also includes the following genes: TUBA8 TUBB2A NSDHL RAB18 NDE1 TUBA1A TUBB3 KIF1BP WDR62 GPSM2

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Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

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Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

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

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Hereditary Renal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

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fumaric aciduria Panel

Spain.

By Bioarray

This panel specifically test the FH gene.

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Multiple cutaneous and uterine leiomyomas Panel

Spain.

By Bioarray

This panel specifically test the FH gene.

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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

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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

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LEIOMYOMATOSIS AND RENAL CELL CANCER Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FH gene.

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

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

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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

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Leiomyomatosis, Sequencing FH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FH gene.

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Leiomyomatosis, Deletions-Duplications (MLPA) FH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FH gene.

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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

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Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: SDHB SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2 VHL WT1

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

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Phosphorus Renal/Urinary Tract Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

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

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

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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

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Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Renal Cancer: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Renal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): FH Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FH gene.

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

Pheochromocytoma-Paraganglioma: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pheochromocytoma-Paraganglioma: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX RET

More info about this panel

Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX RET

More info about this panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): FH Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FH gene.

More info about this panel

Fumarate Hydratase Deficiency: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FH gene.

More info about this panel


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