Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA)

Test Details
CPT CODE 81177, 81178, 81183, 81179, 81180, 81181, 81182, 81184, 81343, 81344, 81479
PRICE $895
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Spinocerebellar ataxias (SCAs), and episodic ataxias are the most common types of ADCAs. SCAs are numbered based upon their time of identification. SCA3 is the most common type of SCA worldwide, followed by SCA2, SCA1, and SCA6. Some of the complicated forms have not been given a SCA number, like Dentatorubral Pallidoluysian Atrophy (DRPLA). Anticipation can be observed in the autosomal dominant ataxias in which CAG trinucleotide repeats occur. Anticipation results from expansion in the number of CAG repeats with transmission of the gene to subsequent generations. Most ADCAs have an overlap in clinical presentation, which makes it hard to differentiate. The most frequent clinical symptoms in all ADCAs are progressive adult-onset gait ataxia (often with hand dysmetria), and dysarthria associated with cerebellar atrophy. The episodic ataxias are characterized by periods of unsteady gait and often associated with nystagmus or dysarthria. Myokymia, vertigo, or hearing loss may occur in some of the subtypes. Permanent ataxia and even cerebellar atrophy may result late in the disease course.

Maximum reportable sizing:
ATN1 – 110 repeats
ATXN1 – 150 repeats
ATXN10 – 90 repeats
ATXN2 – 150 repeats
ATXN3 – 120 repeats
ATXN7 – 125 repeats
ATXN8OS/ATXN8 – 150 repeats
CACNA1A – 145 repeats
NOP56 – 65 repeats
PPP2R2B – 150 repeats
TBP – 120 repeats

Relevant Diseases
  • Spinocerebellar Ataxia Type 8 (SCA8, ATXN8)
  • Spinocerebellar Ataxia Type 10 (SCA10, ATXN10)
  • Spinocerebellar Ataxia Type 12 (SCA12, PPP2R2B)
  • Spinocerebellar Ataxia Type 17 (SCA17, TBP)
  • Spinocerebellar Ataxia Type 36 (SCA36, NOP56)
  • Dentatorubro-pallidoluysian atrophy (DRPLA, ATN1)
  • Spinocerebellar Ataxia Type 1 (SCA1, ATXN1)
  • Spinocerebellar Ataxia Type 2 (SCA2, ATXN2)
  • Spinocerebellar Ataxia Type 3 (SCA3, ATXN3)
  • Spinocerebellar Ataxia Type 6 (SCA6, CACNA1A)
  • Spinocerebellar Ataxia Type 7 (SCA7, ATXN7)

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed

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