Number of Panel Genes: 
5

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

5 Panel Genes: GDF6, GDF3, MEOX1, MYO18B, RIPPLY2
Next Generation Sequencing
$1,200
Test Code: 1963
Deletion / Duplication
$990
Test Code: 1964
NGS/Del Dup Comprehensive
$2,040
Test Code: 1965

Test Details

Technical Information
Panel Genes: 
GDF6, GDF3, MEOX1, MYO18B, RIPPLY2
Disease Groups: 
Skeletal Dysplasias
MIM: 
118100
214300
613702
Billing
Price: 
$1,200
CPT Codes: 
81479 x 5
Ordering
SKU:
1963
Turnaround Time: 
Typically 3 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: 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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