Amyloidosis, Hereditary, Transthyretin-related

Description

Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by Hund et al., 2001). Patients with transthyretin amyloidosis typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms.Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by Hund et al., 2001). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; {176300.0001}) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss ({176300.0006}) or Maryland/German ({176300.0003}) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (OMIM ) has been referred to as FAP III or Iowa type (see {105200} and {107680.0010}). The Finnish type of amyloidosis (OMIM ) has been referred to as FAP IV and is caused by mutations in gelsolin (OMIM ).Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (Saraiva, 2002). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, {180300}; familial Mediterranean fever, {249100}), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see {104750}).Ando et al. (2005) provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac.

Clinical Features

Top most frequent phenotypes and symptoms related to Amyloidosis, Hereditary, Transthyretin-related

  • Seizures
  • Pica
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Milia
  • Myopathy
  • Spasticity
And another 70 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Amyloidosis, Hereditary, Transthyretin-related Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TTR.

By Molecular Diagnostic Laboratory Kingston General Hospital in Canada.

TTR
Specificity
100 %
Genes
100 %
Entrapment Neuropathy Evaluation.

By Athena Diagnostics Inc in United States.

TTR, PMP22
Specificity
50 %
Genes
100 %
Amyloidosis Evaluation (TTR).

By Athena Diagnostics Inc in United States.

TTR
Specificity
100 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TTR, RAF1, GLA, PTPN11, TTN, MYH7, MYBPC3, LAMP2, PKP2, PDLIM3, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, TPM1, TNNT2, MYOZ2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Hypertrophic cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TTR, GLA, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
6 %
Genes
100 %
Hypertrophic cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TTR, GLA, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
6 %
Genes
100 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy Panel.

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

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

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

TTR, GAA, RAF1, SCO2, COX15, SURF1, FXN, GLA, PTPN11, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Restrictive Cardiomyopathy.

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

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
12 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel (23 genes).

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

TTR, SCO2, SURF1, CAV3, LDB3, MYBPC3, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiomyopathy Panel (37 genes).

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

TTR, CRYAB, SCO2, TAZ, SURF1, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Restrictive Cardiomyopathy Panel.

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

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
12 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Familial Transthyretin Amyloidosis.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR
Specificity
100 %
Genes
100 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
HCM Panel (20 Genes).

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

TTR, RAF1, GLA, PTPN11, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
5 %
Genes
100 %
Pan Cardiomyopathy Panel (62 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Transthyretin Amyloidosis Test.

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

TTR
Specificity
100 %
Genes
100 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

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

TTR, GAA, EYA4, DSP, SLC25A4, SCO2, TAZ, COX15, FXN, DMD, GLA, FKTN, SGCA, SGCB, SGCG, LMNA, FKRP, CAV3, TTN, DES , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Familial Transthyretin Amyloidosis (TTR) Sequencing.

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

TTR
Specificity
100 %
Genes
100 %
TTR Gene Sequencing.

By GeneDx in United States.

TTR
Specificity
100 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1 , (...)

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

By GeneDx in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
Genes
100 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

TTR, TAZ, LMNA, MT-TK, MT-ND1, MT-ND6, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ACTC1, ANKRD1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Amyloidosis due to deposits of transthyretin.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

TTR
Specificity
100 %
Genes
100 %
CardioNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
CMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
DCMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, LAMP2, ABCC9, ACTC1, LAMA4, NKX2-5 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
TTR gene sequence and deletion/duplication.

By Ambry Genetics in United States.

TTR
Specificity
100 %
Genes
100 %
HCMNext.

By Ambry Genetics in United States.

TTR, RAF1, FXN, GLA, PTPN11, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
HCMFirst reflex HCMNext.

By Ambry Genetics in United States.

TTR, RAF1, FXN, GLA, PTPN11, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
TTR mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TTR
Specificity
100 %
Genes
100 %
Transthyretin (TTR) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

TTR
Specificity
100 %
Genes
100 %
Transthyretin (TTR) gene Val30Met mutation detection test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

TTR
Specificity
100 %
Genes
100 %
TTR. Complete sequencing.

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

TTR
Specificity
100 %
Genes
100 %
TTR. Detection of the mutation p.Val50Met (V30M) by sequencing.

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

TTR
Specificity
100 %
Genes
100 %
Familial transthyretin amyloidosis (Met30 mutation on TTR gene).

By CGC Genetics in Portugal.

TTR
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Familial transthyretin amyloidosis (sequence analysis of TTR gene).

By CGC Genetics in Portugal.

TTR
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Familial Transthyretin Amyloidosis.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

TTR
Specificity
100 %
Genes
100 %
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR
Specificity
100 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, FBN1, NRAS, FKTN, LMNA, CAV3, DES, MYH7, MYBPC3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, TGFBR2, FBN2, ABCC9 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, RAF1, SCO2, GLA, KRAS, PTPN11, PRKAR1A, CAV3, TTN, MYH7, LDB3, BAG3, FHL1, MYBPC3, TCAP, MYO6, LAMP2, RYR2, ACTC1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
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 Amyloidosis, gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, GSN, APOA1, FGA, APOA2, B2M, LYZ
Specificity
15 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Transthyretin Amyloidosis.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

TTR
Specificity
100 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
TTR.

By MGZ Medical Genetics Center in Germany.

TTR
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
TTR.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTR
Specificity
100 %
Genes
100 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTR, EYA4, DSP, CRYAB, TAZ, DMD, GLA, FKTN, LMNA, CAV3, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Amyloidosis.

By Centogene AG - the Rare Disease Company in Germany.

TTR
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathy, hypertrophic Panel.

By CeGaT GmbH in Germany.

TTR, GLA, CAV3, TTN, MYH7, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Single gene testing TTR.

By CeGaT GmbH in Germany.

TTR
Specificity
100 %
Genes
100 %
Familial Transthyretin Amyloidosis.

By Medical Genetics Unit Sistemas Genómicos in Spain.

TTR
Specificity
100 %
Genes
100 %
Hypertrophic Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TTR, SLC25A4, GLA, CAV3, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Familial transthyretin amyloidosis, TTR sequencing.

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

TTR
Specificity
100 %
Genes
100 %
TTR gene sequencing.

By Health in Code in Spain.

TTR
Specificity
100 %
Genes
100 %
Hypertrophic cardiomyopathy wiht suspected familial amyloidosis.

By Health in Code in Spain.

TTR
Specificity
100 %
Genes
100 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
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 %
Hypertrophic Cardiomyopathy Short Panel.

By Health in Code in Spain.

TTR, GLA, PTPN11, DES, MYH7, FLNC, MYBPC3, ACTA1, LAMP2, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3
Specificity
7 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)

View the complete list with 61 more genes
Specificity
2 %
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 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
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 %
Familial transthyretin amyloidosis (TTR).

By Health in Code in Spain.

TTR
Specificity
100 %
Genes
100 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 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 %
Hypertrophic cardiomyopathy panel.

By Health in Code in Spain.

TTR, GLA, PTPN11, DES, MYH7, FLNC, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, TPM1, TNNT2, MYL2, MYL3
Specificity
6 %
Genes
100 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
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 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
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 %
Amyloidosis, hereditary, Transthyretin-related.

By Praxis fuer Humangenetik Wien in Austria.

TTR
Specificity
100 %
Genes
100 %
Carpal tunnel syndrome, familial.

By Praxis fuer Humangenetik Wien in Austria.

TTR
Specificity
100 %
Genes
100 %
Dystransthyretinemic hyperthyroxinemia.

By Praxis fuer Humangenetik Wien in Austria.

TTR
Specificity
100 %
Genes
100 %
TTR.

By Division Human Genetics Medical University Innsbruck in Austria.

TTR
Specificity
100 %
Genes
100 %
Amyloidosis, hereditary, Transthyretin-related.

By MedGene in Slovakia.

TTR
Specificity
100 %
Genes
100 %
Carpal tunnel syndrome, familial.

By MedGene in Slovakia.

TTR
Specificity
100 %
Genes
100 %
Dystransthyretinemic hyperthyroxinemia.

By MedGene in Slovakia.

TTR
Specificity
100 %
Genes
100 %
Invitae Transthyretin Amyloidosis Test.

By Invitae in United States.

TTR
Specificity
100 %
Genes
100 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, TMEM43 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Invitae Hypertrophic Cardiomyopathy Panel.

By Invitae in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, TPM1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Amyloidosis, hereditary, transthyretin realted: TTR gene sequence analysis.

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

TTR
Specificity
100 %
Genes
100 %
CARDIOMYOPATHY, DILATED (DCM.

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

TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, ANKRD1, TNNC1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GLA, CAV3, TTN, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, MYPN, TPM1, TNNT2, JPH2, MYOZ2, MYL2, MYL3
Specificity
6 %
Genes
100 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TTR, EYA4, DSP, DNAJC19, TAZ, ALMS1, GLA, FKTN, LMNA, CAV3, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
TTR.

By Fulgent Genetics Fulgent Genetics in United States.

TTR
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 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

TTR, ACAD9, AGL, ACADVL, GAA, ELAC2, SLC25A4, NDUFAF2, RAF1, AGK, COX15, FXN, BRAF, GLA, HRAS, SOS1, CBL, MYH7, FLNC, BAG3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Transthyretin-related familial amyloid cardiomyopathy.

By Bioarray in Spain.

TTR
Specificity
100 %
Genes
100 %
Andrade disease (familiar amyloid polyneuropathy).

By Bioarray in Spain.

TTR
Specificity
100 %
Genes
100 %
CardioGene Set.

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

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy Gene Set.

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

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Hypertrophic Cardiomyopathy Gene Set.

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

TTR, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, MYH7, MYBPC3, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Restrictive Cardiomyopathy NGS and Deletion/Duplication Panel.

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

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, MYPN, TNNT2
Specificity
10 %
Genes
100 %
TTR Gene Sequencing and Deletion/Duplication Analysis.

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

TTR
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, PSEN1, TAZ, GLA, LMNA, MT-TL1, MT-TK, PSEN2, CAV3, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ABCC9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, BMPR2, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
Genes
100 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Wolff-Parkinson White Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

TTR, RAF1, GLA, PTPN11, CAV3, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy, familial hypertrophic Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

TTR, RAF1, GLA, PTPN11, CAV3, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Amyloidosis, Hereditary, Transthyretin-Related Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

TTR
Specificity
100 %
Genes
100 %
TTR Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

TTR
Specificity
100 %
Genes
100 %
Cardiomyopathies.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.

TTR, TAZ, LMNA, TTN, MYH7, MYBPC3, TNNI3, MYH6, PLN, TNNT2, MYL2
Specificity
10 %
Genes
100 %
AMYLOIDOSIS TYPE 1 or FAMILIAL AMYLOID POLYNEUROPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

TTR
Specificity
100 %
Genes
100 %
AMYLOIDOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

TTR, APOA1, FGA, APOA2, LYZ
Specificity
20 %
Genes
100 %
Visceral Hereditary Amyloidosis, Sequencing TTR Gene.

By Reference Laboratory Genetics in Spain.

TTR
Specificity
100 %
Genes
100 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.

By Reference Laboratory Genetics in Spain.

TTR, AGL, GAA, SLC25A4, FXN, GLA, PTPN11, CAV3, TTN, DES, MYH7, FLNC, LDB3, MYBPC3, TCAP, LAMP2, ANK2, RYR2, ACTC1, MYLK2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, TNNC1, TNNI3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TTR, HOXA11, FLNB, GDF5, FGF9, NOG
Specificity
17 %
Genes
100 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GSN, APOA1, FGA, B2M, LYZ, IL31RA, OSMR
Specificity
13 %
Genes
100 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
100 %
Amyloidogenic transthyretin amyloidosis.

By Labor Dr. Wisplinghoff in Germany.

TTR
Specificity
100 %
Genes
100 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

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

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

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

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

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

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, RAF1, MTO1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2 , (...)

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

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Phosphorus Restrictive Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
13 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, CAV3, NF1, DES , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, MTO1, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

Alternate names

Amyloidosis, Hereditary, Transthyretin-related Is also known as hereditary amyloidosis, transthyretin-related, transthyretin amyloidosis, amyloid polyneuropathy, familial;fap;attrv30m-related amyloidosis; familial amyloid polyneuropathy type i; familial amyloid polyneuropathy, portuguese-swedish-japanese type; ttr amyloid neuropathy; transthyretin amyloid neuropathy; transthyretin amyloid polyneuropathy.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 GLUCOCORTICOID DEFICIENCY 2; GCCD2 FICOLIN 3 DEFICIENCY CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS GERSTMANN-STRAUSSLER DISEASE; GSD

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