Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) Genetic Panel

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Justification

Hypophosphatasia (HPP) is a progressive disorder that affects the bones and joints due to loss-of-function mutations in the ALPL gene. Severe HPP is estimated to account for 1 in 100,000 births in the US, although moderate forms of disease are expected to be much higher. Osteogenesis imperfecta (OI) is also a very rare genetic disorder that affects the bones. The symptoms are very similar to HPP, but OI involves collagen-related defects. There are eight different types of OI, and these are classified based on severity and genetic factors.

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

	Sample Type	Volume Required	Minimum Volume	Stability
PREFERRED	EDTA Whole Blood	3mL	1mL	Room Temp.: 1 month Refrigerated: 1 month
ALTERNATIVE	Cheek swab	2 swab	-	Room Temp.: 1 month Refrigerated: 1 month

REJECTION CRITERIA	Sample contamination; sample compromised
SPECIAL INSTRUCTIONS	-

General Information

METHODOLOGY	NGS
STAT TAT	< 48 hours (M-F)
STAT TAT Performance	> 90% of results released in 48 hours
ROUTINE TAT	< 5 days (M-F)
ALTERNATIVE NAMES	HPP/OI Genetic Sequencing
DESCRIPTION	This test sequences the exons plus 20bp of the flanking introns from the following genes: ALPL/TNSALP, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LEPRE1/P3H1, OSX/SP7, PLOD2, PPIB, SERPINF1, SERPINH1, TMEM38B, WNT1. Sanger sequencing may be used to confirm variants as needed.
LIMITATIONS	This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE	Interpretation: Negative
ASSOCIATED TESTING	-
REFERENCES	Taillandier A, et al. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Mol Genet Metab. 2015 Nov;116(3):215-20. Sabir AH, Cole T. The evolving therapeutic landscape of genetic skeletal disorders. Orphanet J Rare Dis. 2019 Dec 30;14(1):300.
SAMPLE REPORT	Upon request
NEW YORK STATE APPROVED	No

Test Codes

ORDER CODE	P1210
CPT CODE	81408x2, 81479x14
LOINC CODE	77084-2