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Newborn Hypotonia Panel (DM1, PWS AND SMA)

Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page

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.
Myotonic Dystrophy, Prader-Willi Syndrome and Spinal Muscular Atrophy

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

Related Tests:  Myotonic Dystrophy, Prader-Willi Syndrome and Spinal Muscular Atrophy

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 - SMA: http://www.ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
Genetics Home Reference - PWS: http://ghr.nlm.nih.gov/condition/prader-willi-syndrome
Genetics Home Reference – DM1:  http://ghr.nlm.nih.gov/condition/myotonic-dystrophy