Variant Names: 
Majewski syndrome
Short rib-polydactyly syndrome, type II (SRPS2)

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: NEK1
Next Generation Sequencing
$990
Test Code: 1296
Deletion / Duplication
$990
Test Code: 1297
NGS/Del Dup Comprehensive
$1,365
Test Code: 1640

Related Panels
Skeletal dysplasia ciliopathy NGS panel (19 genes)
NGS $1,620
Del Dup $990
Comp $1,995

Test Details

Technical Information
Genes: 
NEK1
Disease Groups: 
Skeletal Ciliopathies
MIM: 
263520
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1296
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 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: 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.

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