Test Directory

Clear All
Test Code
1804
Test Name
Gracile Bone Dysplasia
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
GCLEB; KCS2
Description

Gracile bone dysplasia (GCLEB; MIM 602361) and Kenny-Caffey syndrome, type 2 (KCS2; MIM 127000) are autosomal dominant disorders caused by mutations in the FAM111A gene. They share clinical features such as short stature, thin long bones, primary hypoparathyroidism, hypocalcemia, microphthalmia, triangular face and frontal bossing. Radiographs show increased bone density with small and slender bones. GCLEB is more severe and it is usually perinatally lethal. The additional features of GCLEB include premature closure of basal sutures,  cloverleaf skull deformity due to underossified bone with resultant soft tissue protrusion, deficient calvarial mineralization, flared metaphyses and fractures. Patients with KCS2 are small at birth, have delayed closure of the anterior fontanelle and hyperopia. Episodic hypocalcemic tetany and convulsions are common.  Kenny-Caffey syndrome, type 1 (KCS1; MIM 244460) is  the autosomal recessive form of KCS. It is caused by mutations in the TBCE gene. The clinical phenotype of KCS1 is similar to KCS2, but the psychomotor development of KCS1 patients is delayed.
Testing Schedule
Monday-Friday
Genes
FAM111A
MIM
602361
Disease Group
Metabolic and Endocrine, 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.
© 2026 HNL Lab Medicine. All rights reserved.