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AAAS Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Informed Consent
• Test Requisition

TEST DETAILS

Genes:

AAAS

Disorders:

• Achalasia-Addisonianism-Alacrima
• Allgrove Syndrome
• Triple-A Syndrome

Clinical Utility:

• Confirmation of a clinical diagnosis
• Carrier testing in unaffected family members
• Recurrence risk calculation
• Prenatal diagnosis in families with an affected child and known mutation(s)

Lab Method:

ORDERING

Test Code:

219

Turnaround Time:

6-8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$1,850.00

Billing Information:

View Neurology Billing Policy

ICD Codes:

• 255.4: Corticoadrenal insufficiency
• 337: Disorders of the autonomic nervous system Includes: disorders of peripheral autonomic, sympathetic, parasympathetic, or vegetative system Excludes: familial dysautonomia [Riley-Day syndrome] (742.8)
• 530: Achalasia and cardiospasm Achalasia (of cardia), Aperistalsis of esophagus Megaesophagus
• 356: Hereditary and idiopathic peripheral neuropathy

REFERENCES

1. Houlden H et al. (2002) Brain 125: 2681-90
2. Qin K et al., (2007) Mol Genet Metab 92(4):359-63
3. Milenkovic T et al., (2010)Eur J Pediatr. 169(11):1323-8
4. Sandrini F et al., (2001) J Clin Endocrinol. 86: 5433-7
5. Brooks BP et al., (2005) Clin Genet. 68: 215-21

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