Mitral valve prolapse (MVP) is a common finding with a prevalence of approximately 2 to 3% in the general population.  It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of one or both leaflets into the left atrium during systole. MVP2 (MIM 607829) is nonsyndromic and it has been shown to be caused by autosomal dominant mutations in the DCHS1 gene encoding more

Tests Available

By gene: DCHS1
Next Generation Sequencing
Test Code: 2333
Deletion / Duplication
Test Code: 2334
NGS/Del Dup Comprehensive
Test Code: 2335

Test Details

Technical Information
Disease Groups: 
Cardiovascular 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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