HLX Spinal Muscular Atrophy (SMA) Case SMA

Synonyms

Allscripts (AEHR) Order Name

Spinal Muscular Atrophy

Sunrise Clinical Manager (SCM) Order Name

Spinal Muscular Atrophy

EPIC Order Name

Spinal Muscular Atrophy (SMA) Molecular Detection

Clinical Info

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the Survival Motor Neuron gene 1 SMN1 gene function, it is the primary genetic cause of infant death. Affected individuals experience progressive muscle weakness due to degeneration of the lower motor neurons. SMA has an incidence of 1/10,000 live births and a carrier state of 1/50.

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: 1 Lavender-top (EDTA) tubes
Specimen: 1-3 mL of peripheral blood collected in EDTA tube
Transport Temperature: Room Temperature
Collection Instructions:
Note: Documented patient consent form required*

* Options for documenting patient consent: (1) the electronic Consent Form in the electronic medical record (EMR), (2) the Genetic Consent form available for download in the laboratory test order section of the EMR, or (3) the Patient Consent section of the paper "Northwell Genetic Screening Tests" requisition.
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Transport Instructions

Room Temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Polymerase chain reaction (PCR) and Capillary Electrophoresis

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratory

Northwell Health Laboratories - Manhasset

CPT

81329

PDM

5910160

Result Interpretation

An interpretative report will be provided.

Forms

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