Variant Names:
Verma-Naumoff syndrome
Short rib-polydactyly syndrome, type III (SRPS3)
Asphyxiating thoracic dystrophy 3 (ATD3)
Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2; MIM 611263), SRTD3 (MIM 613091), SRTD4 (MIM 613819), SRTD5 (MIM 614376), SRTD6 (MIM 263520), SRTD7 (MIM 614091) and SRTD8 (MIM 615503) display similar clinical, radiological and histological features.read more
Tests Available
By gene: DYNC2H1
Next Generation Sequencing
$900
Test Code: 1298
|
Deletion / Duplication
$900
Test Code: 1299
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1641
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Related Panels
Test Details
Technical Information
Genes:
DYNC2H1
Disease Groups:
Skeletal Ciliopathies
MIM:
263510
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1298 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.