Klippel-Feil syndrome (KFS) is a genetically heterogenous 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: RIPPLY2
Sanger Sequencing
$590
Test Code: 2324
Deletion / Duplication
$680
Test Code: 2348
Sanger/Del Dup Comprehensive
$1,170
Test Code: 2349

Test Details

Technical Information
Genes: 
RIPPLY2
Disease Groups: 
Skeletal Dysplasias
Billing
Price: 
$590
CPT Codes: 
81479 x 1
Ordering
SKU:
2324
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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