Pregnancy Loss Microarray (GREENWOOD GENETICS)

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LAB200134: Pregnancy Loss Microarray | CYTMPL

GREENWOOD GENETICS LAB: STERILE CONTAINER (Room Temperature) Min Vol: 1

3-5 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.

Indications Molecular testing is useful to confirm the diagnosis and to screen individuals for carrier status. Detection MLPA analysis is used to detect copy number of exons 7 and 8 of the SMN1 and SMN2 genes, and this test is designed for diagnosis and carrier screening. Please note that while approximately 95% of individuals with spinal muscular atrophy have homozygous deletions of at least exon 7 of the SMN1 gene, the remaining 5% of patients may have a sequence variant that will not be detected by MLPA analysis and requires SMN1-specific sequencing. Specimen Requirements 3-5 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. Turnaround time MLPA: 2 weeks SMN1 sequencing: 3 weeks