Microcephaly-capillary malformation syndrome (MICCAP; MIM 614261) is an autosomal recessive neurocutaneous disorder characterized by severe progressive microcephaly, early-onset epilepsy, severe psychomotor dysfunction, multiple cutaneous small capillary malformations and distal digital abnormalities. Additional findings include dysmorphic facial features, ventricular septal defect, hearing loss and vesicoureteral reflux.read more
Tests Available
By gene: STAMBP
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Next Generation Sequencing
Test Code: 2162
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Deletion / Duplication
Test Code: 2163
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NGS/Del Dup Comprehensive
Test Code: 2164
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Test Details
Technical Information
Genes:
STAMBP
Disease Groups:
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
MIM:
614261
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2162 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.