Number of Panel Genes:
3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare developmental brain disorder characterized by brain and head overgrowth, hydrocephalus and bilateral perisylvian polymicrogyria. Polydactyly is a common finding. MPPH is associated with delayed development, mild to severe intellectual disability, epilepsy, and oromotor dysfunction.
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3 Panel Genes: AKT3, CCND2, PIK3R2
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Next Generation Sequencing
Test Code: 5409
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Deletion / Duplication
Test Code: 5410
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NGS/Del Dup Comprehensive
Test Code: 5411
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Test Details
Technical Information
Panel Genes:
AKT3, CCND2, PIK3R2
Disease Groups:
Neurological and Muscular Disorders
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
5409 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.