Pelizaeus-Merzbacher Disease, Spastic Paraplegia : PLP1 Deletion/Duplication (MLPA)

Test Information

PLP1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Turnaround Time

2 weeks

CPT Code(s)

81404

Cost

$500

Genes

Clinical Information

Pelizaeus-Merzbacher is an X-linked hypomyelinative leukodystrophy and progressive neurologic condition presenting in infancy. Typical findings include abnormal eye movement, hypotonia, head tremor, ataxia, spasticity, quadri- and paraplegia, involuntary movements and cognitive deficiencies.

Carrier females are usually asymptomatic or may have mild neurologic findings in adulthood, but some severely affected females have been reported as well.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

multiplex ligation-dependent probe amplification (MLPA)

Detection

Sequencing of the PLP1 gene will detect a mutation in approximately 15-25% of affected males. 50-60% of males will have dosage alterations detected by MLPA anlaysis. The majority of these are duplications rather than deletions.

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Deletion/Duplication
Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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