Newborn Hypotonia Panel (DM1, PWS and SMA)

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NEWBORN HYPOTONIA PANEL (DM1, PWS AND SMA)

Discounted Panel consists of tests for Prader-Willi Syndrome (PWS), Spinal Muscular Atrophy (SMA), and Myotonic Dystrophy (DM1)                                            
Chromosomal Locus: See individual tests for details
Pseudonyms: Components are DM, PWS and SMA, Newborn Hypotonia
TURNAROUND TIME:     15 days
TESTING METHODOLOGY:
Refer to individual tests for more details.
SPECIMEN REQUIREMENTS:
  • 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.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
INTERPRETATIVE DATA:
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.
ADDITIONAL RESOURCES:
Genetics Home Reference – DM1:  http://ghr.nlm.nih.gov/condition/myotonic-dystrophy