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IGHMBP2 Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

IGHMBP2

Disorders:

• Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

Clinical Utility:

• Confirmation of the clinical diagnosis
• Identification of at-risk family members
• Prenatal diagnosis

Lab Method:

Exon Array CGH

ORDERING

Test Code:

906

Turnaround Time:

3-4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

84311x1, 88271x10, 88291x1

List Price:

$500.00

Billing Information:

View Billing Policy

ICD Codes:

• 518.83: Chronic respiratory failure
• 335.1: Spinal muscular atrophy, unspecified
• 519.4: Disorders of diaphragm Diaphragmitis, Paralysis of diaphragm Relaxation of diaphragm

REFERENCES

1. Grohmann et al., (2001) Nat Genet 29:75-77
2. Guenther et al., (2007) Hum Mutat 28:808-815
3. Guenther et al., (2004) Hum Genet 115:319-326
4. Guenther et al., (2009) J Mol Med 87:31-41
5. Kaindl et al., (2008) J Child Neurol 23:199-204
6. Diers et al., (2005) Acta Neuropathol 110:289-297
7. Grohmann et al., (2003) Ann Neurol 54:719-724
8. Basel-Vanagaite et al., (2008) Genet Testing 12:53-56

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