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Test Code 4895

Spastic Paraplegia 54 via the DDHD2 Gene

DDHD2

N/A

Who is this test for?

Individuals with a complex form of autosomal recessive spastic paraplegia and abnormal lipid accumulation detected by cerebral magnetic resonance spectroscopy (MRS) are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DDHD2.

Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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