Fabry Disease GLA Mutation


Sunquest Code:NGSMCoPath Code:NGS
Epic Code:LAB5865Epic Name:Next Generation Sequencing
Synonyms:Alpha Galactosidase A Deficiency; Anderson-Fabrey Disease
Methodology:Next generation sequencing
CPT Code:81479, G0452
Turnaround Time:Results are reported within 6 weeks.
Special Instructions:Refer to Gene Specific CPT Codes for Genetic Sequencing in Associated Links for list of genes, panels and CPTs for tests available. Gene(s) or panel should also be indicated in the comment section of EPIC order. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Bone Marrow Transplant Patient: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

NGS Genetic Testing Consent Form, NGS Order Instructions, Gene Specific CPT Codes for Genetic Sequencing



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Blood; bone marrow; skin/tissue; cultured fibroblasts; buccal swab; DNA
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Shared specimen testing using automated hematology analyzer will not be accepted. Tissue sample not frozen, place in RPMI or not delivered within one hour. DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Whole blood/bone marrow/buccal/fibroblasts/DNA:  Do not process. Store at room temperature.
Tissue: Deliver to laboratory within 1 hour, freeze specimen at -70°C or use RPMI.
Shipping Instructions:Blood/bone marrow/buccal/fibroblasts/DNA: Ship at room temperature. Do not freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:
This assay is useful for clinical genetic diagnosis of Mendalian inherited disorders using a next-generation (NGS) platform. This platform allows simultaneous sequencing of a large number of genes using a single assay. Genomic DNA is extracted in the UMMC Molecular Diagnostic Laboratory. The DNA sample undergoes quantitation and next generation library creation. The prepared sample undergoes hybridization, capture and illumina paired-end sequencing at the University of Minnesota Genomic Center. During the bioinformatic analysis phase, samples are demultiplexed, aligned to a target reference, and variants called. The Molecular Diagnostics Lab will interpret the data using genomic databases and generate a clinical report.


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