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Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)

Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)
TEST: MOL259
Test number copied
620077
MOL259
CPT: 81284
81284
Updated on 09/23/2020
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Genes Assessed

FXN

Specimen Requirements


Specimen

Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells
Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells

Volume

4 mL, 1 swab, or 200 ng of DNA, 75 mg muscle, 90% cell confluency
4 mL, 1 swab, or 200 ng of DNA, 75 mg muscle, 90% cell confluency

Container

Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask
Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask

Collection

Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: 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 (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.
Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: 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 (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.

Storage Instructions

Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice
Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice

Stability Requirements

Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None
Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None

Causes for Rejection

Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection
Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

Test Details


Use

Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems.
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems.

Limitations

Maximum reportable sizing: 1300 repeats
Maximum reportable sizing: 1300 repeats

Methodology

Repeat-Primed PCR (QP-PCR)
Repeat-Primed PCR (QP-PCR)

Recommended MNG Kits

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing
SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing

Z-Code

ZB9AG
ZB9AG

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620077 Friedreich Ataxia Repeat Exp 21762-0 230163 Specimen Status N/A
620077 Friedreich Ataxia Repeat Exp 21762-0 620078 FRDARE Genetic Test Result 21762-0
620077 Friedreich Ataxia Repeat Exp 21762-0 620079 FRDARE Genetic Test Int. N/A