Variant Names: 
Fowler syndrome

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH; MIM 225790) is an autosomal recessive perinatal lethal condition due to mutations in the gene encoding the feline leukemia virus subgroup C receptor 2 (FLVCR2).read more

Tests Available

By gene: FLVCR2
Sanger Sequencing
Test Code: 1278
Deletion / Duplication
Test Code: 1279
Sanger/Del Dup Comprehensive
Test Code: 1632

Test Details

Technical Information
Disease Groups: 
Neurological and Muscular Disorders
Vascular Malformations
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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