X-linked Adrenoleukodystrophy (X-ALD)

Sponsored diagnostic testing programs for X-linked Adrenoleukodystrophy (X-ALD)

X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disorder caused by mutations in ABCD1, leading to accumulation of very-long-chain fatty acids. It can cause progressive neurologic decline and adrenal insufficiency. Genetic testing confirms the diagnosis.

1 program found for X-linked Adrenoleukodystrophy (X-ALD)

Programs

1 program
X-linked Adrenoleukodystrophy (X-ALD)
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Sponsored by
Mirum Pharmaceuticals

X-ALD Newborn Screening Reflex Panel

This no-cost testing program supports U.S. patients with a positive state newborn screen for X-ALD or relatives of PBD-ZSD–positive patients previously tested at PreventionGenetics. Testing must be ordered by a qualified healthcare provider. The program is designed to aid timely diagnosis and inform patient management.

Endocrinology
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Performing labPrevention Genetics