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Test Code
5360
Test Name
Short Stature With Endocrinopathy 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

Genomics short stature with endocrinopathy panel is aimed to patients with proportionate short stature without significant skeletal dysplasia.

The Short stature with endocrinopathy NGS panel consists of fourteen genes: BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1 and SOX3.

 

Gene

Disorder

MIM

Inheritance

BTK

Isolated growth hormone deficiency, type III (IGHD3)

307200

XLR

GH1

Isolated growth hormone deficiency, type IA (IGHD1A)

Isolated growth hormone deficiency, type IB (IGHD1B)

Isolated growth hormone deficiency, type II (IGHD2)

Kowarski syndrome

262400

612781

173100

262650

AR

AR

AD

AR

GHR

Growth hormone insensitivity, partial (GHIP)

Laron syndrome

604271

262500

AD

AR

GHRHR

Isolated growth hormone deficiency, type IB (IGHD1B)

612781

AR

GHSR

Growth hormone deficiency, isolated partial (GHDP)

615925

AD / AR

HESX1

Septooptic dysplasia

182230

AD / AR

IGF1

Insulin-like growth factor I deficiency

608747

AR

IGF1R

Insulin-like growth factor I, resistance to (IGF1RES)

270450

AD / AR

LHX3

Pituitary hormone deficiency, combined, 3 (CPHD3)

221750

AR

LHX4

Pituitary hormone deficiency, combined, 4 (CPHD4)

262700

AD

OTX2

Microphthalmia, syndromic 5 (MCOPS5)

Pituitary hormone deficiency, combined, 6 (CPHD6)

610125

613986

AD

AD

POU1F1

Pituitary hormone deficiency, combined, 1 (CPHD1)

613038

AD / AR

PROP1

Pituitary hormone deficiency, combined, 2 (CPHD2)

262600

AR

SOX3

Panhypopituitarism, X-linked (PHPX)

312000

XL

 

 

 
Testing Schedule
Monday-Friday
Genes
BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
Disease Group
Metabolic and Endocrine
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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