Klippel-Feil syndrome (KFS) is a genetically heterogeneous disorder characterized by variable degrees of bony fusion in the cervical vertebra. KFS patients may have spinal instability, disc degeneration, scoliosis, malformation of laryngeal cartilage with vocal impairment, cleft palate, facial dysmorphism, and limb and hand abnormalities.read more

Tests Available

By gene: GDF6
Sanger Sequencing
Test Code: 1954
Deletion / Duplication
Test Code: 1955
NGS/Del Dup Comprehensive
Test Code: 1956

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Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Hearing Disorders
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: 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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