Chromosomal Locus: See individual tests for details
Pseudonyms: Components are DM, PWS and SMA, Newborn Hypotonia
TURNAROUND TIME: 15 days
Refer to individual tests for more details.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
- Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
- Min. Collection: 0.7 ml whole blood EDTA.
- Transport: Blood EDTA at Room Temp shipped next day air (No Saturday delivery; store specimen refrigerated and ship Monday).
- Stability: Ambient: Up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
- Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
- Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.
Counseling and informed consent are recommended for genetic testing. A consent form
is available as a resource but not required.
Incidence: Refer to individual tests for more details.
Inheritance: Refer to individual tests for more details.
Disease Characteristics: See individual tests for more details.
Molecular Genetic Mechanism: See details on individual sheets
Analytical Sensitivity: 99%
Test Limitations: This testing exclusively examines the critical target regions.
INDICATIONS FOR USE:
- To determine whether a newborn exhibiting signs of hypotonia has one of these conditions
- To differentiate individuals with myotonia between the conditions.