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Test Code
1444
Test Name
Achondrogenesis, Type IA
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
Alternate Names
ACG1A; Achondrogenesis; Houston-Harris type
Description

Achondrogenesis type IA (ACG1A; MIM 200600), also known as achondrogenesis, Houston-Harris type, is an autosomal recessive lethal skeletal dysplasia. Individuals with achondrogenesis type IA have short trunks and severe micromelia. Clinical findings include a short neck, a barrel shaped chest, flat nasal bridge, anteverted nares, and a protuberant abdomen. Hydrops fetalis is common. Radiographic findings included wedge shaped femurs with proximal metaphyseal spikes, broad and short tibiae, and short radii. The vertebral bodies, hands and feet are unossified. Additionally, the skull is poorly ossified, and the ribs are short, beaded and may be fractured. The clavicles are short and wide and the ischia and clavicles are hypoplastic. ACG1A should be differentiated from achondrogenesis type IB and achondrogenesis type II. ACG1A is caused by mutations in the thyroid hormone receptor interactor 11 gene (TRIP11). This gene encodes the Golgi microtubule-associated protein 210 (GMAP-210). GMAP-210 is required for the glycosylation and cellular transport of several matrix proteins in chondrocytes and is important for structural organization of the Golgi.
Testing Schedule
Monday-Friday
Genes
TRIP11
MIM
200600
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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