Number of Panel Genes: 
15

Connective Tissue Gene Tests Abnormal mineralization disorders NextGen sequencing panel consists of fifteen genes associated with abnormal mineralization. The panel includes hypophosphatasia, chondrocalcinosis, CASR-related disorders, and autosomal dominant, autosomal recessive and X-linked forms of rickets. Copy number variation (CNV) analysis of the abnormal mineralization genes using a high density targeted (HDT) array is also offered as a panel.read more

Tests Available

15 Panel Genes: ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
Next Generation Sequencing
$1,370
Test Code: 5082
Deletion / Duplication
$1,150
Test Code: 5083
NGS/Del Dup Comprehensive
$2,370
Test Code: 5084

Test Details

Technical Information
Panel Genes: 
ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
Disease Groups: 
Abnormal Mineralization Disorders
MIM: 
146300
241510
241500
118600
239200
145980
601198
300009
300554
264700
241520
613312
193100
307800
241530
277440
Billing
Price: 
$1,370
CPT Codes: 
81479 x 11
81404 x 1
81405 x 1
81406 x 2
Ordering
SKU:
5082
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: 
  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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