Serpentine fibula-polycystic kidney syndrome (SFPKS; MIM 102500) is a rare, autosomal dominant disorder caused by mutations in the NOTCH2 gene. SFPKS shares many phenotypic characteristics with Hajdu-Cheney syndrome (HJCYS; MIM 102500), another disorder caused by truncating mutations in the last exon of NOTCH2.read more
Tests Available
By gene: NOTCH2
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Next Generation Sequencing
$990
Test Code: 1419
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Deletion / Duplication
$680
Test Code: 1420
HDT test includes exons 5 to 34 only
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NGS/Del Dup Comprehensive
$1,570
Test Code: 1639
HDT test includes exons 5 to 34 only
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Sanger Sequencing
Option 1: Exon 34 only
$350
Test Code: 1421
Sanger Sequencing
Option 2: Reflex to remaining exons
$1,240
Test Code: 1422
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Test Details
Technical Information
Genes:
NOTCH2
Disease Groups:
Kidney Disorders
Skeletal Dysplasias
MIM:
102500
Billing
Price:
$990
CPT Codes:
81479 x 1
Ordering
SKU:
1419 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
- Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
- 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.