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Test Code
1416
Test Name
Myhre Syndrome
CPT Codes
81405, 81406
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
MYHRS
Description

Myhre syndrome (MYHRS; MIM 139210) is a rare, autosomal dominant developmental disorder associated with advanced paternal age. It is characterized by short stature, shortened long bones, short hands and feet, limited joint mobility, vertebral abnormalities, generalized muscular hypertrophy, variable intellectual disability, various congenital heart defects, thick skin, and characteristic  facies including prognathism, midface hypoplasia, small mouth and narrow palpebral fissures. Additional clinical features include cleft lip/palate, hearing loss, broad ribs, iliac hypoplasia, thickened calvarium and laryngotrachael stenosis.  Myhre syndrome is caused by heterozygous, typically de novo, mutations involving the same codon, Ile500, in the SMAD4 gene.  To date Ile500Thr, Ile500Val and Ile500Met substitutions have been described.  SMAD4 encodes a protein with a critical role in transforming growth factor-beta and bone morphogenic protein signal transduction. Myhre syndrome displays clinical overlap with GOMBO syndrome (MIM 233270), geleophysic dysplasia 1 (GPHYSD1; MIM 23150), geleophysic dysplasia 2 (GPHYSD2; MIM 614185), acromicric dysplasia (ACMICD; MIM 102370), Weill-Marchesani syndrome 1 (WMS1; MIM 277600) and Weill-Marchesani syndrome 2 (WMS2; MIM 608328).
Testing Schedule
Monday-Friday
Genes
SMAD4
MIM
139210
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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