Condition Description

Achalasia is a disorder of the esophagus, in which the esophagus has abnormal muscle activity and does not possess the ability to move food into the stomach. The major symptom is usually difficulty with swallowing. Complications may include regurgitation, gastroesophageal reflux, pulmonary aspiration, and perforation of the esophagus. Achalasia affects approximately 1 in every 100,000 people in the United States.

The etiology of achalasia remains largely unknown; however, the occurrence of familial achalasia and its association with defined genetic syndromes have indicated that in some cases achalasia can be caused by genetic anomalies. EGL tests for genes known to cause the following achalasia-associated syndromes:

  • Triple A syndrome (Achalasia-Addisonianism-Alacrima) or Allgrove syndrome
  • Moyamoya diesase-6 with achalasia
  • Alacrima, achalasia, and mental retardation syndrome
  • Baraister-Winter Cerebrofrontofacial syndrome
  • Autoimmune Polyendocrine syndrome type with or without Reversible Metaphyseal dysplasia
  • Ataxia, posterior column, with retinitis pigmentosa (PCARP)

 

References:

  1. MedlinePlus: https://www.nlm.nih.gov/medlineplus/ency/article/000267.htm
  2. Dumic M et al. Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr. 2012 Oct;171(10):1453-9. Epub 2012 Apr 28.
  3. OMIM.

Genes (6)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

The test is indicated for:

  • Individuals with a clinical diagnosis of achalasia.

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Detection

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Saliva
SLV

Requirements
Oragene™ Saliva Collection Kit
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
Collection and Shipping
Please do not refrigerate or freeze saliva sample. Please store and ship at room temperature.
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.
DNA, Isolated
DNA

Requirements
Microtainer
8µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

How to Order