Test Code 12621
New York approved

Klippel-Feil Syndrome Panel

6 genes

2 - 3 weeks (6 - 12 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Klippel-Feil syndrome
  • Individuals who have a family member with presumed Klippel-Feil syndrome without previous genetic testing
  • Individuals without access to the specific variant information for a family member who has genetically-confirmed Klippel-Feil syndrome
  • Reproductive partners of individuals with autosomal recessive Klippel-Feil syndrome
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

OTHER OPTIONS
for standard institutional pricing.

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