Simpson-Golabi-Behmel (SBGS), Sotos, Weaver (WVS) and Cohen-Gibson syndromes are overgrowth syndromes. They are characterized by pre- and postnatal overgrowth, accelerated osseous maturation, a characteristic craniofacial appearance, and developmental delay.read more

Tests Available

By gene: NFIX
Next Generation Sequencing
$990
Test Code: 1969
Deletion / Duplication
$990
Test Code: 1970
NGS/Del Dup Comprehensive
$1,365
Test Code: 1971

Related Panels
Overgrowth syndrome NGS panel (7 genes)
NGS $1,220
Del Dup $990
Comp $1,595

Test Details

Technical Information
Genes: 
NFIX
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
Craniosynostosis and Craniofacial Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
602535
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1969
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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