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EDA1 Gene Sequencing (males)

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

EDA1

Disorders:

• Ectodermal Dysplasia
• Hypo-/Anhidrotic Ectodermal Dysplasia

Clinical Utility:

• 1. Confirmation of a clinical diagnosis
• 2. Differentiation between X-linked and recessive forms of the disease
• 3. Carrier detection in female relatives of an affected male
• 4. Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

1601

Turnaround Time:

6-8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$1,210.00

Billing Information:

View Billing Policy

ICD Codes:

• 757.31: Congenital ectodermal dysplasia

REFERENCES

1. Paakkonen et al. 2001 Hum Mut 17:349
2. Vincent et al. 2001 Eur J Hum Genet 9:355-363
3. Monreal et al. 1998 Am J Hum Genet 63:380-389

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