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
$490
Test Code: 1954
Deletion / Duplication
$680
Test Code: 1955
Sanger/Del Dup Comprehensive
$1,070
Test Code: 1956

Related Panels
Klippel-Feil syndrome NGS panel (5 genes)
NGS $1,200
Del Dup $990
Comp $2,040

Test Details

Technical Information
Genes: 
GDF6
Disease Groups: 
Skeletal Dysplasias
Hearing Disorders
MIM: 
118100
Billing
Price: 
$490
CPT Codes: 
81479 x 1
Ordering
SKU:
1954
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)
Shipping: 

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

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