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Test ID: SMN1Z    
SMN1 Gene, Full Gene Analysis, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene

 

Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or when disease-causing variants are unknown

 

Second-tier carrier screening for the reproductive partner of a known SMA carrier

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing includes full gene sequencing of the SMN1 gene.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

 

See Inherited Motor Neuron Disease Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

SMN1 Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Spinal Muscular Atrophy Type I
SMA1
SMAI
SMA Infantile Acute Form
Muscular Atrophy, Infantile
Severe Infantile Acute Spinal Muscular Atrophy
Spinal Muscular Atrophy-1
Spinal Muscular Atrophy, Type II
SMA2
SMAII
Muscular Atrophy, Spinal, Intermediate Type
Muscular Atrophy, Spinal, Infantile Chronic Form
Infantile Chronic Spinal Muscular Atrophy
Spinal Muscular Atrophy-2
Spinal Muscular Atrophy, Type III
SMA3
SMAIII
Muscular Atrophy, Juvenile
Kugelberg-Welander Syndrome
KWS
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form
Spinal Muscular Atrophy-3
Spinal Muscular Atrophy, Type IV
SMA4
SMAIV
Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Adult-Onset SMA
Spinal Muscular Atrophy-4
SMN1Z