Severe achondroplasia with developmental delay and acanthuses nigricans and Thanatophoric dysplasia, type I and II - Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN; MIM 616482) is an autosomal dominant disorder caused by a specific mutation in FGFR3. These patients have profound short stature, midface hypoplasia, developmental delay, mental retardation and develop acanthosis nigricans.read more

Tests Available

By gene: FGFR3
Sanger Sequencing
$350
Test Code: 1295
Exon 15 only

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Test Details

Technical Information
Genes: 
FGFR3
Test Note: 
Exon 15 only
Disease Groups: 
Skeletal Dysplasias
MIM: 
616482
Billing
Price: 
$350
CPT Codes: 
81403 x 1
Ordering
SKU:
1295
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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