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Test Code
5214
Test Name
Frontometaphyseal Dysplasia 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
Alternate Names
FMD
Description

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, abnormalities of the tubular bones including an Erlenmeyer-flask appearance of the femur and tibia, increased diaphyseal bone density, and joint contractures. Patients may have mitral valve prolapse, atrial and ventricular septal defects, vascular aneurysms, subglottic tracheal narrowing and genitourinary anomalies including hydronephrosis and hydroureter. Muscular hypotonia is also a common feature. Mental retardation may also be present. Perinatal death may occur in males and obligate female carriers may be affected. Mutations in FLNA account for about 50% of all FMD mutations. FMD may also be caused by mutations in the MAP3K7 or TAB2 gene. Individuals who have MAP3K7 or TAB2 mutations appear phenotypically similar to those with FLNA mutations, except for an increased tendency to develop keloid scars. Mutations in MAP3K7 also cause a related disorder, cardiospondylocarpofacial syndrome.

The frontometaphyseal dysplasia NGS panel consists of three genes: FLNA, MAP3K7 and TAB2.

 

Gene

Disorder

MIM

Inheritance

FLNA

Frontometaphyseal dysplasia 1 (FMD1)

305620

XLR

MAP3K7

Frontometaphyseal dysplasia 2 (FMD2)

Cardiospondylocarpofacial syndrome (CSCF)

617137

157800

AD

AD

TAB2

Frontometaphyseal dysplasia, TAB2 related

-

AD
Testing Schedule
Monday-Friday
Genes
FLNA, MAP3K7, TAB2
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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