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Test Code
5084
Test Name
Abnormal Mineralization Disorders NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

The 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.

The Abnormal mineralization disorders NGS panel consists of fifteen genes: ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1 and VDR.

 

Gene

Disorder

MIM

Inheritance

ALPL

Hypophosphatasia, adult

Hypophosphatasia, childhood

Hypophosphatasia, infantile

146300

241510

241500

AD/AR

ANKH

Chondrocalcinosis 2 (CCAL2)

118600

AD

CASR

Hyperparathyroidism, neonatal severe (NSHPT)

Hypocalciuric hypercalcemia, familial, type 1 (HHC1)

Hypocalcemia, autosomal dominant 1 (HYPOC1)

Hypocalcemia, autosomal dominant 1, with Bartter syndrome

239200

145980

601198

601198

AR

AD

AD

AD

CLCN5

Dent disease 1

Hypophosphatemic rickets, X-linked recessive 

300009

300554

XLR

CYP27B1

Vitamin D-dependent rickets, type 1A (VDDR1A)

264700

AR

DMP1

Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1)

241520

AR

ENPP1

Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2)

613312

AR

FAH

Tyrosinemia, type I (TYRSN1)

276700

AR

FGF23

Hypophosphatemic rickets, autosomal dominant (ADHR)

193100

AD

OCRL

Dent disease 2

300555

XLR

PHEX

Hypophosphatemic rickets, X-linked dominant (XLHR)

307800

XLD

SLC34A1

Nephrolithiasis / osteoporosis, hypophosphatemic, 1 (NPHLOP1)

612286

AD

SLC34A3

Hypophosphatemic rickets with hypercalciuria, hereditary (HHRH)

241530

AR

SLC9A3R1

Nephrolithiasis / osteoporosis, hypophosphatemic, 2 (NPHLOP2)

612287

AD

VDR

Vitamin D-dependent rickets, type 2A (VDDR2A)

277440

AR
Testing Schedule
Monday-Friday
Genes
ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
MIM
118600, 145980, 146300, 193100, 239200, 241500, 241510, 241520, 241530, 264700, 277440, 300009, 300554, 307800, 601198, 613312
Disease Group
Skeletal Disorders
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. View the Terms.
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