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
Next Generation Sequencing
Test Code: 2162
Deletion / Duplication
Test Code: 2163
NGS/Del Dup Comprehensive
Test Code: 2164

Test Details

Technical Information
Disease Groups: 
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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