Achondrogenesis, type II / Hypochondrogenesis | Connective Tissue Gene Tests

Achondrogenesis, type II (ACG2; MIM 200610) and Hypochondrogenesis (MIM 200610) are lethal conditions caused by defects in COL2A1. Although they share phenotypic characteristics, ACG2 is considered more severe. Affected fetuses and infants have a large head, soft cranium, flat face, barrel shaped trunk, and short long bones. In ACG2 the entire spine and sacrum may not be ossified.read more

Tests Available

By gene: COL2A1

$900

Test Code: 1005

$900

Test Code: 1006

$1,100

Test Code: 1446

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Test Details

Technical Information

Genes:

COL2A1

Disease Groups:

Skeletal Dysplasias

MIM:

200610

Billing

CPT Codes:

81479 x 1

Ordering

SKU:

1005

Turnaround Time:

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

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

Prenatal Specimens: