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TGM1 Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

TGM1

Disorders:

• Collodion Baby
• Ichthyosis, Congenital Recessive
• Lamellar Ichthyosis Type 1

Clinical Utility:

• Confirmation of a clinical diagnosis
• Carrier testing in unaffected family members
• Prenatal diagnosis

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

125

Turnaround Time:

8-9 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$1,550.00

Billing Information:

View Billing Policy

ICD Codes:

• 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
• 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

REFERENCES

1. Huber M, et al., Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-8 (1995)
2. Russell LJ, et al., Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-83 (1995)
3. Shevchenko YO, et al., Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 106:492-9 (2000).

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