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Tests included are: HD, SCA 1,2,3,6 & 7, DRPLA and FRDA Gene Symbols: HTT, ATN1, FXN, ATXN 1,2,3,7 Chromosomal Locus: See individual tests Pseudonyms: Ataxia, Neuromuscular TURNAROUND TIME: 15 days TESTING METHODOLOGY: Different polymerase chain reactions (PCR) that brackets the trinucleotide repeat regions. See individual test pages for more details. SPECIMEN REQUIREMENTS:
Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 3mm3 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. INTERPRETATIVE DATA: Incidence: Unknown, perhaps about 1 in 10,000. Inheritance: Mostly autosomal dominant. Variable age of onset but complete penetrance. Disease Characteristics: See details on individual sheets Molecular Genetic Mechanism: See details on individual sheets Related Tests: SCA Panel, DRPLA, FRDA and HD Clinical Sensitivity: 99% Over 97% of ataxia conditions (by incidence) are encompassed by this panel. Analytical Sensitivity: 99% Test Limitations: This testing examines the trinucleotide repeat regions, exclusively. However, no other mechanism has been described for these conditions and the testing is considered diagnostic. Rare diagnostic errors can occur due to primer or probe site mutations or rare polymorphisms. INDICATIONS FOR USE:
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