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Test Code
2267
Test Name
Multiple Pterygium Syndrome, Lethal Type - CHRNA1
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
LMPS
Description

Multiple pterygium syndromes are autosomal recessive multiple congenital anomaly disorders characterized by webbing of the neck, elbows, and/or knees and arthrogryposis. Multiple pterygium syndrome, lethal type (LMPS; MIM 253290) is caused by mutations in the CHRNA1, CHRND and CHRNG genes, which code for acetylcholine receptor subunit alpha, delta and gamma, respectively. Other typical findings in LMPS include intrauterine growth retardation, fetal akinesia, cystic hygroma, fetal hydrops and lung hypoplasia. Mutations in the CHRNG gene can also cause the nonlethal variant of this phenotype, multiple pterygium syndrome, Escobar variant (EVMPS; MIM 265000). Additional findings include short stature, dysmorphic facies, cleft palate, pulmonary hypoplasia and skeletal anomalies. Mutations in CHRND can also cause myasthenic syndrome, congenital, 3A, slow-channel (CMS3A; MIM 616321), myasthenic syndrome, congenital, 3B, fast-channel (CMS3B; MIM 616322) and myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C; MIM 616323). Mutations in CHRNA1 can cause myasthenic syndrome, congenital, 1A, slow-channel (CMS1A; MIM 601462) and myasthenic syndrome, congenital, 1B, fast-channel (CMS1B; MIM 608930).

 
Testing Schedule
Monday-Friday
Genes
CHRNA1
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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