CACNA1S

OMIMHGNC

Synonym(s): Cav1.1, hypoPP, HOKPP, MHS5, CACNL1A3

Locus: 1q32.1

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

 

Disorders

Tests

Test Type
Molecular (57)
Multi-Gene Panel (41)
Multi-Method Panel (22)
Test Method
Del/Dup (CNV) (21)
Mutation Scanning of Select Exons (3)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (15)
Sequencing, Next Gen (41)
Prenatal/Carrier
Prenatal (17)
Carrier (27)
Lab Location
Germany(11)
Spain(11)
USA(25)
Turkey(1)
Portugal(3)
Poland(3)
Austria(2)
Finland(1)
 
TAT: 2-3 weeks
price: contact lab
Hypokalemic periodic paralysis Genetic Analysis (CACNA1S 4 Mutations and SCN4A 5 Mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-5 weeks
price: contact lab
Detection of mutations R528H, R528G, R1239H and R1239G on the CACNA1S gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Mutation screening in exons 12 and 18 of the SCN4A gene and exon 21 of the CACNA1S gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 5-6 weeks
price: contact lab
CACNA1S Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Malignant Hyperthermia Type 5 , Mutation (R1086H) CACNA1S Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hypokalemic Periodic Paralysis , Sequencing Exons (11,30) CACNA1S Gene and Exon 12 SCN4A Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hypokalemic Periodic Paralysis , Panel Massive Sequencing CACNA1S,SCN4A Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Ion Channel Disorders 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
CACNA1S Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Hypokalemic Periodic Paralysis , Sequencing CACNA1S Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Periodic Paralysis Mutation Screen
method(s): ◦ Sequencing, Capillary (Sanger) 
Mission Health System, Fullerton Genetics Center - Asheville, NC, USA
Hypokalemic Periodic Paralysis
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 8-9 weeks
price: contact lab
Neuromuscular Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
CACNA1S Deletion/duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-5 weeks
price: contact lab
Malignant Hyperthermia Susceptibility
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Periodic Palsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Hyperkalemic Periodic Paralysis Type 1 Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Non-dystrophic myotonias (NGS panel for 11 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Hypokalemic periodic paralysis type 1 (sequence analysis of CACNA1S gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Periodic Paralysis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Malignant Hyperthermia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Non Dystrophic Myotonias, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Malignant Hyperthermia, Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 343 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Malignant Hyperthermia (NextGen Sequencing Panel and Copy Number Analysis; 2 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
CACNA1S Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
CACNA1S
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Neuromuscular NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $770.00
Malignant Hyperthermia Susceptibility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,590.00
Malignant Hyperthermia Susceptibility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,490.00
Primary Periodic Paralysis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $770.00
Primary Periodic Paralysis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Malignant hyperthermia (Maligne Hyperthermie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Hypo-/Hyperkalemic periodic paralysis (Hypo/hyper-kaliämische periodische Paralyse)
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Hypokalemic periodic paralysis type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Neuromuscular Channelopathies, Panel Massive Sequencing (NGS) 47 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: $2,490.00
Comprehensive Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,990.00
Comprehensive Neuromuscular Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Malignant hyperthermia type 5
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Thyrotoxic periodic paralysis type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 8-10 weeks
price: contact lab
NGS Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Myopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Malignant Hyperthermia Susceptibility Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Hypokalemic Periodic Paralysis Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Skeletal Muscle Channelopathy Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-5 weeks
price: contact lab
Malignant hyperthermia panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA