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Test Code CACNA1A Sequencing CACNA1A Sequencing

Clinical System Name

CACNA1A Sequencing

Synonyms

episodic ataxia
familial hemiplegic migraine
 

Description

The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.  More than 50 mutations in the CACNA1A gene have been found to cause episodic ataxia type 2 (EA2), the most common form of episodic ataxia. In addition to problems with coordination and balance (ataxia), EA2 is associated with involuntary eye movements called nystagmus. At least 18 mutations in the CACNA1A gene have been identified in people with familial hemiplegic migraine type 1 (FHM1). Like EA2, FHM1 is commonly associated with ataxia and nystagmus.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 4 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 800 nanograms

Minimum Vol: 600 nanograms

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 5 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2 -4 w

 

Performing Laboratory

MNG Laboratories

Department

Department:  MNG Laboratories, 5424 Glenridge Dr, Atlanta, GA 30342

Phone Number: (678) 225-0222 

 

Reference Range

Interpretive report is provided.

Methodology

Method: Polymerase Chain Reaction (PCR) followed by DNA sequencing analysis

Analytical Volume:

Limitations:

Special Instructions

Links to:

 

Medical Neurogenetics

 

Clinical Utility

Molecular testing can distinguish between different sporadic and hereditary ataxia diagnoses and may guide treatment. Sequence analysis of CACNA1A identifies 95% of pathogenic mutations in that gene. Partial CACNA1A deletions have been described but are much less common than sequence variants.

 

GeneReviews: Episodic Ataxia type 2

 

CACNA1A - Genetics Home Reference

Send Out Instructions

Reference Test Name: CACNA1A
Reference Test Number: MOL033
Instructions: Ship at room temperature, avoid freezing sample. Send overnight via FedEX. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).