Homocystinuria caused by cystathionine beta-synthase deficiency - Mutations resulting in decreased cystathionine beta-synthase activity represent the most common cause of homocystinuria (MIM 236200).read more
Tests Available
By gene: CBS
Next Generation Sequencing
Test Code: 1164
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Deletion / Duplication
Test Code: 1165
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NGS/Del Dup Comprehensive
Test Code: 1563
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Test Details
Technical Information
Genes:
CBS
Disease Groups:
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Metabolic and Endocrine Disorders
Eye Disorders
MIM:
236200
Billing
CPT Codes:
81406 x 1
Ordering
SKU:
1164 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.