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Test ID: SMNCS    
Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies

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

General population carrier screening for spinal muscular atrophy (SMA)

 

Carrier screening for reproductive partners of known SMA carriers

 

Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene (SMN1) or other family history of SMA

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

SMN1 exon 7 copy number and SMN2 exon 7 copy number are determined. Also ascertains whether the g.27134T>G polymorphism is present or absent in patients found to have 2 copies of SMN1.

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
CULFBFibroblast Culture for Genetic TestYesNo

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

For tissue cultures only: If skin biopsy is received, fibroblast culture for genetic test will be added per laboratory protocol and charged separately.

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

Dosage Analysis by Digital Droplet Polymerase Chain Reaction (ddPCR)

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

SMA Carrier by Del/Dup

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
SMA carrier screening