Tyrosinemia, Type I; Tyrsn1

Description

Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by Bliksrud et al., 2005). Genetic Heterogeneity of Hereditary TyrosinemiaTyrosinemia type II (TYRSN2 ), also known as Richner-Hanhart syndrome, is caused by mutation in the TAT gene (OMIM ) on chromosome 16q22. Tyrosinemia type III (TYRNS3 ) is caused by mutation in the HPD gene (OMIM ) on chromosome 12q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Tyrosinemia, Type I; Tyrsn1

  • Pica
  • Failure to thrive
  • Muscle weakness
  • Myopathy
  • Peripheral neuropathy
  • Hepatomegaly
  • Pain
  • Splenomegaly
  • Cardiomyopathy
  • Hypertonia
And another 40 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Tyrosinemia, Type I; Tyrsn1 have a estimated birth prevalence of 0.9 per 100k in Europe.


Mendelian

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Tyrosinemia, Type I; Tyrsn1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
FAH Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FAH
Specificity
100 %
Genes
100 %
FAH Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FAH
Specificity
100 %
Genes
100 %
FAH Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FAH
Specificity
100 %
Genes
100 %
FAH Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FAH
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

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

By Institute for Human Genetics University Clinic Freiburg in Germany.

FAH
Specificity
100 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

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

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
FAH Gene Sequencing.

By GeneDx in United States.

FAH
Specificity
100 %
Genes
100 %
FAH Remaining Exons Sequencing.

By GeneDx in United States.

FAH
Specificity
100 %
Genes
100 %
FAH Select Exons Sequencing.

By GeneDx in United States.

FAH
Specificity
100 %
Genes
100 %
FAH. Complete sequencing.

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

FAH
Specificity
100 %
Genes
100 %
FAH. Detection of the mutations c.1062 5G>A (IVS12 5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G) and p.Pro261Leu (P261L) by sequencing.

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

FAH
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Tyrosinemia Type I.

By CGC Genetics in Portugal.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia, type I (sequence analysis of FAH gene).

By CGC Genetics in Portugal.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia type 1 ( FAH).

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

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia Type I.

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

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia, Type I via FAH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAH
Specificity
100 %
Genes
100 %
Abnormal mineralization disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Abnormal mineralization disorders Deletion/ Duplication Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Abnormal mineralization disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Diagnostic génotypique direct de la tyrosinémie héréditaire de type 1.

By Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec in Canada.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia type I.

By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc. in Canada.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia type I.

By Centogene AG - the Rare Disease Company in Germany.

FAH
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Hypophosphatemic rickets Panel.

By CeGaT GmbH in Germany.

SLC34A1, OCRL, FAH, VDR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1, KL
Specificity
10 %
Genes
100 %
Single gene testing FAH.

By CeGaT GmbH in Germany.

FAH
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
FAH.

By Division Human Genetics Medical University Innsbruck in Austria.

FAH
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Elevated Succinylacetone Test.

By Invitae in United States.

FAH
Specificity
100 %
Genes
100 %
Invitae Tyrosinemia Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Invitae Elevated Tyrosine Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Tyrosinemia type I: FAH gene Screening.

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

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia Type I: FAH Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia Type I: FAH Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FAH
Specificity
100 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Tyrosinemia Type 1 (FAH).

By Integrated Genetics Westborough Integrated Genetics in United States.

FAH
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
FAH.

By Fulgent Genetics Fulgent Genetics in United States.

FAH
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

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

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, FAH, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1, KL
Specificity
8 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Liver Failure Panel.

By Blueprint Genetics in Finland.

ALDOB, ATP7B, SMPD1, PHKA2, FAH, PYGL, PHKG2, MPI, PHKB, GALT, GALE, GALK1, LIPA, NPC1, NPC2, SERPINA1
Specificity
7 %
Genes
100 %
Tyrosinemia Panel.

By Blueprint Genetics in Finland.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Tyrosinemia type 1.

By Bioarray in Spain.

FAH
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Tyrosinemia NGS and Deletion/Duplication Panel.

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

FAH, TAT, HPD, GSTZ1
Specificity
25 %
Genes
100 %
FAH Gene Sequencing and Deletion/Duplication Analysis.

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

FAH
Specificity
100 %
Genes
100 %
TYROSINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Tyrosinemia Type 1, Frequent Mutations FAH Gene.

By Reference Laboratory Genetics in Spain.

FAH
Specificity
100 %
Genes
100 %
Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes.

By Reference Laboratory Genetics in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Tyrosinemia, type I: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FAH
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Tyrosinemia, Type I; Tyrsn1 Is also known as hepatorenal tyrosinemia, fumarylacetoacetase deficiency, fah deficiency;fah deficiency; fumarylacetoacetase deficiency; fumarylacetoacetate hydrolase deficiency; hepatorenal tyrosinemia; tyrosinemia type i.



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