CACNA1D

OMIMHGNC

Synonym(s): Cav1.3, CACH3, CACN4, CCHL1A2, CACNL1A2

Locus: 3p21.1

Protein: Voltage-dependent L-type calcium channel subunit alpha-1D

 

Disorders

Tests

Test Type
Molecular (32)
Multi-Gene Panel (28)
Multi-Method Panel (13)
Test Method
Del/Dup (CNV) (10)
Mutation Scanning of Entire Coding Region (7)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (30)
Prenatal/Carrier
Prenatal (7)
Carrier (15)
Lab Location
Spain(10)
USA(11)
Poland(2)
Germany(3)
Netherlands(1)
Portugal(2)
Finland(2)
Estonia(1)
 
TAT: 6-8 weeks
price: contact lab
OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 12-13 weeks
price: contact lab
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2,
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN and Detection of large deletions and/or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A by MLPA. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks
price: contact lab
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G and Detection of large deletions and/ or duplication in genes KCNQ1, KCNH2, KCNE2, SCN5A by MLPA
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1. and detection of deletions/duplications in genes KCNQ1, KCNH2 by MLPA
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-16 weeks
price: $1,500.00
OtoSCOPE
method(s): ◦ Sequencing, Next Gen 
University of Iowa Hospital and Clinics, Molecular Otolaryngology and Renal Research Laboratories - Iowa City, IA, USA
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 12-16 weeks
price: $1,880.00
Analysis Cardiac Arrhythmia Genes (NGS panel 48 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx HL
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Ventricular Arrhythmia and Sudden Cardiac Death, Panel Massive Sequencing (NGS) 53 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
CACNA1D
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-10 weeks
price: contact lab
NGS Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4-6 weeks
price: $3,000.00
Comprehensive Cardiomyopathy Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 4-6 weeks
price: $2,500.00
Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Epilepsy
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 3-5 weeks
price: $1,590.00
Primary Aldosteronism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,590.00
Primary Aldosteronism via the CACNA1D Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Neuromuscular Channelopathies, Panel Massive Sequencing (NGS) 47 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Sinoatrial node dysfunction and deafness
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Primary aldosteronism, seizures, and neurologic abnormalities
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Cardiac Conduction System Related Disorders, Panel Massive Sequencing (NGS) 21 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain