Spinocerebellar Ataxia 3
General Information
- Lab Name
- Spinocerebellar Ataxia 3
- Lab Code
- SCA3T
- Epic Name
- Spinocerebellar Ataxia 3
- Description
For further information about this test, see Spinocerebellar Ataxia Panel [SCAPN], which includes panels 1,2,3,6 and 7.
- Synonyms
- Azorean Neurologic Disease, Machado Joseph Disease, MJD, SCA3
- Components
-
Code Name SCA3A1 ATXN3 (SCA3), allele 1 SCA3A2 ATXN3 (SCA3), allele 2 SCAITP SCA1 Interpretation SCACOM SCA1 Comment SCA3DI SCA3 Director
Interpretation
- Method
Polymerase Chain Reaction (PCR)/Capillary Electrophoresis
- Reference Range
- See individual components
- Ref. Range Notes
Normal Mutable Normal Intermediate Penetrance Full Penetrance SCA 3 <45 repeats >44 repeats
Ordering & Collection
- Specimen Type
- Blood/Cultured amniocytes or chorionic villus cells/Extracted DNA from approved sample types (blood, chorionic villi, amniocyte). Direct chorionic villi, amniocyte, or amniotic fluid testing require Genetics Director approval. Please call the lab at 206-598-7021
- Collection
-
Acceptable:
- Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube
- Extracted DNA from blood, chorionic villi, and amniocytes: 500 ng (concentration >10 ng/uL)
- Cultured amniocytes/chorionic villi: MCC is required for testing fetal samples. See MCC OLTG.
- Also acceptable, but requires the Genetics Director's approval and a backup culture. Direct chorionic villi and/or TISSUE: Send 20mg of tissue in a sterile tube or RPMI culture media
*NOTE: If a fetal sample (cultured amniocytes or chorionic villi) was received, add MCC to the order. Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide, MCC for ordering and specimen requirements). See Special Instructions.
Unacceptable: Heparin green top tubes, buccal swab
- Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube
- Forms & Requisitions
- Handling Instructions
SPS specimen handling:
- Whole blood sample: store in the refrigerator
- Cultured amniocytes/chorionic villi: store at room temperature. Call the Genetics lab upon receipt (206)598-7021.
- Extracted DNA: store in the refrigerator
- Whole blood sample: store in the refrigerator
- Quantity
-
Requested: Entire specimen
Minimum: Blood: 1 mL. If volume is less than 1mL, do not cancel. Send to Genetics lab. Confluent cultured cells: One (1) T25 flask. Extracted DNA: 250 ng
Processing
- Receiving Instructions
For clients outside of UW, please include any relevant clinical history.
If fetal tissue (cultured amniocytes or chorionic villi) was received for prenatal testing, consultation with the laboratory is required. Please notify the Genetics lab about prenatal studies via email at geneticshelp@uw.edu or call 206-598-7021.
- Misc Sendout
Performance
- Lab Department
- Genetics(GEN)
- Frequency
- Performed weekly. Results within 2-3 weeks.
- Available STAT?
- No
- Performing Location(s)
-
UW-MT Genetics Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.eduTel (EXOME only): 206-543-0459
Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD
Billing & Coding
- CPT Codes
- 81180
- LOINC
- 49648-9