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.
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
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
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
Search interest in FH
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Canada.
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 United States.
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 United States.
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 United States.
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 France.
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 United States.
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 United States.
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 United States.
FH Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the FH gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United Kingdom.
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 United States.
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 United States.
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 United States.
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 United States.
FH gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the FH gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
Fumarase deficiency (sequence analysis of FH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FH gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Fumarase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FH gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Fumarase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FH gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
FH Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the FH gene.
More info about this panel Spain.
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 Estonia.
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 Estonia.
Fumarase deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FH gene.
More info about this panel Austria.
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 Austria.
Multiple cutaneous and uterine leiomyomata Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FH gene.
More info about this panel Austria.
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 Spain.
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 Spain.
Fumarase deficiency Panel
Slovakia.
By MedGene
This panel specifically test the FH gene.
More info about this panel Slovakia.
Hereditary Leiomyomatosis with renal cell cancer Panel
Slovakia.
By MedGene
This panel specifically test the FH gene.
More info about this panel Slovakia.
Multiple cutaneous and uterine leiomyomata Panel
Slovakia.
By MedGene
This panel specifically test the FH gene.
More info about this panel Slovakia.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Invitae Fumarase Deficiency Test Panel
United States.
By Invitae
This panel specifically test the FH gene.
More info about this panel United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
FH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FH gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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
More info about this panel Finland.
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
More info about this panel Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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
More info about this panel Finland.
fumaric aciduria Panel
Spain.
By Bioarray
This panel specifically test the FH gene.
More info about this panel Spain.
Multiple cutaneous and uterine leiomyomas Panel
Spain.
By Bioarray
This panel specifically test the FH gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 United States.
Leiomyomatosis, Sequencing FH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FH gene.
More info about this panel Spain.
Leiomyomatosis, Deletions-Duplications (MLPA) FH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FH gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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