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Test Code
2040
Test Name
Eiken Syndrome
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
Description

The PTH1R gene encodes a parathyroid hormone / parathyroid hormone-related peptide receptor (PTH / PTHRP). Mutations in PTH1R can cause Chondrodysplasia, Blomstrand type (BOCD; MIM 215045), Eiken syndrome (MIM 600002), Failure of tooth eruption, primary (PFE; MIM 125350) and Metaphyseal chondrodysplasia, Jansen type (MIM 156400). 

BOCD is autosomal recessive disorder. It results from loss of function mutations of PTH receptors. BOCD is a lethal chondrodysplasia characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. 

Eiken syndrome is an autosomal recessive disorder caused by truncation mutations in PTH1R. It is characterized by severely retarded ossification of epiphyses, pelvis, hands, and feet as well as abnormal modeling of the bones.

PFE is a non-syndromic autosomal dominant disorder caused by haploinsufficiency of PTH1R. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affected and usually result in an open bite extending from anterior to posterior. Ankylosis of deciduous teeth is also seen.

The Jansen type of metaphyseal chondrodysplasia is an autosomal dominant disorder caused by constitutively active heterozygous mutations in PTH1R. It is characterized by severe growth plate abnormalities that lead to short-limbed dwarfism. Other findings include bowed limbs, joint contractures, clinodactyly, deafness and generalized osteopenia. Affected individuals also have hypercalcemia and hypophosphatemia with normal or low PTH / PTHRP levels.
Testing Schedule
Monday-Friday
Genes
PTH1R
MIM
600002
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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