KBG syndrome (KBGS; MIM 148050) is an autosomal dominant disorder characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes developmental delay, seizures, and intellectual disability.read more

Tests Available

By gene: ANKRD11
Sanger Sequencing
$1,190
Test Code: 1966
Deletion / Duplication
$680
Test Code: 1967
Sanger/Del Dup Comprehensive
$1,770
Test Code: 1968

Test Details

Technical Information
Genes: 
ANKRD11
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
MIM: 
148050
Billing
Price: 
$1,190
CPT Codes: 
81405 x 1
Ordering
SKU:
1966
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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