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LAMB3 Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

LAMB3

Disorders:

• Epidermolysis Bullosa, Junctional Type
• Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
• Herlitz Junctional Epidermolysis Bullosa
• Mitis Junctional Epidermolysis Bullosa
• Non-Herlitz Junctional Epidermolysis Bullosa

Clinical Utility:

• Confirmation of a clinical diagnosis
• Recurrence risk calculation
• Prenatal diagnosis in families with an affected child and defined mutation

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

1632

Turnaround Time:

6-8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

Billing Information:

View Billing Policy

ICD Codes:

• 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

REFERENCES

1. Varki et al 2006 J Medical Genet 43:641-52
2. Inoue et al 2000 J Invest Dermatol. 114:1061-4
3. Almaani et al., 2008 Br. J Dermatol 160:1094-1097

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