Osteogenesis imperfecta NGS panel - Recessive

Connective Tissue Gene Tests offers five panel options for osteogenesis imperfecta (OI) testing utilizing NextGen sequencing technology, an OI COL1A1 & COL1A2 panel, an OI core panel, a dominant OI panel, a recessive OI panel and a combined dominant and recessive OI panel.  In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in the differential diagnosis of OI.
 
The Recessive osteogenesis imperfecta panel consist of twenty genes: ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1 and XYLT2.

Copy number variation (CNV) analysis of the Recessive osteogenesis imperfecta genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.

OI Recessive Panel
Gene Disorder (MIM) MIM Inheritance
SERPINF1 Osteogenesis imperfecta, type VI (OI6) 613982 AR
CRTAP Osteogenesis imperfecta, type VII (OI7) 610682 AR
P3H1 (LEPRE1) Osteogenesis imperfecta, type VIII (OI8) 610915 AR
PPIB Osteogenesis imperfecta, type IX (OI9) 259440 AR
SERPINH1 Osteogenesis imperfecta, type X (OI10) 613848 AR
FKBP10 Osteogenesis imperfecta, type XI (OI11)
Bruck syndrome 1 (BRKS1)		 610968
259450		 AR
SP7 Osteogenesis imperfecta, type XII (OI12) 613849 AR
BMP1 Osteogenesis imperfecta, type XIII (OI13) 614856 AR
TMEM38B Osteogenesis imperfecta, type XIV (OI14) 615066 AR
WNT1 Osteogenesis imperfecta, type XV (OI15) 615220 AR
CREB3L1 Osteogenesis imperfecta, type XVI (OI16) 616229 AR
SPARC Osteogenesis imperfecta, type XVII (OI17) 616507 AR
ALPL Hypophosphatasia, adult
Hypophosphatasia, childhood
Hypophosphatasia, infantile		 146300
241510
241500		 AR/AD
LRP5 Osteoporosis-pseudoglioma syndrome (OPPG) 259770 AR
MBTPS2 Osteogenesis imperfecta, MBTPS2 related - XLR
PLOD2 Bruck syndrome 2 (BRKS2) 609220 AR
PLS3 PLS3 related Bone mineral density quantitative trait locus 18 (BMND18) 300910 XL
SEC24D Cole-Carpenter syndrome 2 (CLCRP2) 616294 AR
TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) 616897 AR
XYLT2 Spondyloocular syndrome (SOS) 605822 AR

 

 

Genes(s)

SERPINF1 BMP1 SP7 TAPT1 ALPL P3H1 XYLT2 FKBP10 CRTAP MBTPS2 SEC24D LRP5 CREB3L1 PPIB PLS3 SERPINH1 TMEM38B WNT1 SPARC PLOD2

Disease Group(s)

Skeletal disorders

MIM

613982 610682 615066 610968 241510 613848 146300 613849 616229 610915 616897 259440 614856 616294 615220 609220 241500 616507

Billing

81479 x 1

Ordering

Test Code
5105
Additional Test Codes
5103 —Next Generation Sequencing Only, 5104 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
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
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.