Friedreich Ataxia Repeat Expansion Analysis

General Information

Lab Name
Lab Code: 553
Description: Long PCR analysis across the GAA region of the FXN gene to determine allele sizes. Southern analysis is used to identify extremely large GAA repeat expansions and to confirm the PCR results. Submissions must be accompanied by a completed Baylor test requisition indicating test code #6031. Baylor Test Requisition
Synonyms: Ataxia-Friedreich, FXN, Recessive Ataxia

Specimen Type: Blood
Collection: 5 mL blood in LAVENDER TOP tube

Pediatric Draw: 3 mL blood in LAVENDER TOP tube
Handling Instructions
Quantity: requested: 5 mL whole blood
minimum: 3 mL whole blood

Processing: Hold whole blood at Room Temperature

Login: GSEND1-;ROOM TEMP
GSNDT1: BAYMIR
GSTYP1: WB
GTSRQ1: ;FRIEDREICH ATAXIA REPEAT EXPANSION ANALYSIS

Sendouts order Baylor test code #6031. Ship at room temperature. If shipping will be delayed >24 hours, refrigerate and ship at ambient temperature. Ok to ship Friday for Saturday delivery.
Stability: Whole blood samples in EDTA or ACD anticoagulant should be stored at 4 degrees while awaiting shipment. Whole blood samples are stable for at least one week prior to shipping if stored at 4°C.

LIS Dept Code

Performing Location(s)

HMC	Sendout
UW-MT	Sendout

Other Locations/Notes

BAYMGL Baylor College of Medicine,

Medical Genetics Laboratories

2450 Holcombe, Houston, TX 77021 1-800-411-4363

Frequency

Available STAT?