DNA Analysis

DNA Mutation Analysis

  • Coffin-Lowry Syndrome (RSK2) Full gene coding region sequencing
  • Cystic Fibrosis (ACMG Mutation Panel)
  • DNA isolation and banking
  • Factor V deficiency
  • Fragile X Syndrome
  • Hemochromatosis
  • MeCP2 Full gene coding region sequencing (Rett related syndromes)
  • Methylation analysis for Prader-Willi Syndrome / Angelman Syndrome with reflex to FISH and chromosome 15 UPD assay when positive
  • MLPA Analysis:
    • Screening for Common Micro-Deletion Syndromes
    • Subtelomelic Deletion
    • 1p36 Deletion Analysis
  • Myotonic Dystrophy (DM)
  • Non-syndromic deafness (Cx26 gene) full gene coding region sequencing
  • Sickle cell disease
  • Spinal Muscular Atrophy
  • SRY/AZF deletion analysis
  • Uniparental Disomy Studies-Chromosome #_________
  • Other (specify)____________________________________

DNA Linkage Analysis

Parentage (Paternity) Tests


MicroArray CGH Analysis

  1. Standard 44K CGH Analysis
  2. High resolution 105K/244K CGH Analysis

Testing Panels

Specimen Requirements for DNA Analysis:

3-5 cc whole blood in a purple top tube (EDTA) or 10 cc amniotic fluid in sterile plastic conical tube. Refrigerate specimen until shipment.

Turn Around Time:

PCR based tests: 7 days
Southern Blot based tests: 4 weeks
Sequencing based tests: 4 weeks
Array CGH tests: 2 weeks