Test Catalog

Test ID: SMNDX    
Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

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

First-tier newborn screening for spinal muscular atrophy (SMA)


Prenatal testing for SMA


Diagnostic testing to confirm a suspected diagnosis 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 alteration 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
CULAFAmniotic Fluid Culture/Genetic TestYesNo
CULFBFibroblast Culture for Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

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

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added at an additional charge.


If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added per laboratory protocol at an additional charge.


For any prenatal specimen that is received, maternal cell contamination testing will be added per laboratory protocol at an additional charge.


For more information see Newborn Screening Act Sheet Spinal Muscular Atrophy: Zero Functioning Copies of SMN1 in Special Instructions.


The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Newborn Screen Follow-up for Spinal Muscular Atrophy

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.


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

SMA Diagnostic by Del/Dup

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

Spinal Muscular Atrophy Type I
SMA Infantile Acute Form
Muscular Atrophy, Infantile
Severe Infantile Acute Spinal Muscular Atrophy
Spinal Muscular Atrophy-1
Spinal Muscular Atrophy, Type II
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
Muscular Atrophy, Juvenile
Kugelberg-Welander Syndrome
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form
Spinal Muscular Atrophy-3
Spinal Muscular Atrophy, Type IV
Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Adult-Onset SMA
Spinal Muscular Atrophy-4
SMA Diagnostic testing