If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Specify in the lab order if this is for “Carrier” or “Diagnostic” testing. For questions, please call (614) 722-5321.

This test detects the copy number of exon 7 of the SMN1 gene, and will report both homozygous and heterozygous deletions to identify carriers of Spinal Muscular Atrophy (SMA) as well as affected individuals. This test will also report SMN2 copy number. Diagnostic samples are performed as a STAT test, with expected result turnaround time of 7 days or less. If sending a diagnostic sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

Autosomal recessive spinal muscular atrophy (SMA) is associated with having zero functional copies of SMN1. SMN1 exon 7 is absent in ~96% of patients with SMA, whereas most unaffected individuals have two or more functional SMN1 copies. Additionally, ~3–4% of patients with SMA are compound heterozygotes, with an SMN1 exon 7 deletion on one chromosome and a sequence variant in SMN1 on the other chromosome resulting in zero functional copies. Please note, this analysis does not detect other variants in SMN1 including sequence variants, rearrangements, or other deletions and duplications not involving exon 7.

SMN2 copy number has relevance in the setting of individuals with zero functional copies of SMN1 and can act as a disease modifier. Most patients with SMA type I have two or less copies of SMN2, three SMN2 copies are common in patients with SMA type II, and patients with SMA type III presentations often have 3 or 4 copies of SMN2. SMN2 copy number analysis must be interpreted with caution as other modifiers of disease severity have been reported. 

When two copies of SMN1 exon 7 are detected for SMA carrier testing, the presence of the SMN1 c.3+80T>G and/or c.*211_212del gene duplication variants are assessed. This test cannot definitively differentiate between individuals with two copies of SMN1 on one chromosome and zero copies on the other chromosome (silent carrier) from individuals having one copy on each chromosome (non-carrier). The presence of a SMN1 c.*3+80T>G and/or c.*211_212del gene duplication variant is associated with an increased risk of being a silent carrier, but the absence of the gene duplication variant does not preclude the possibility of being a silent carrier. For individuals undergoing carrier testing, a population specific post-test carrier risk estimates table is provided for those who carry two or more SMN1 exon 7 copies.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Specify in the lab order if this is for “Carrier” or “Diagnostic” testing. For questions, please call (614) 722-5321.

This test detects the copy number of exon 7 of the SMN1 gene, and will report both homozygous and heterozygous deletions to identify carriers of Spinal Muscular Atrophy (SMA) as well as affected individuals. This test will also report SMN2 copy number. Diagnostic samples are performed as a STAT test, with expected result turnaround time of 7 days or less. If sending a diagnostic sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

Autosomal recessive spinal muscular atrophy (SMA) is associated with having zero functional copies of SMN1. SMN1 exon 7 is absent in ~96% of patients with SMA, whereas most unaffected individuals have two or more functional SMN1 copies. Additionally, ~3–4% of patients with SMA are compound heterozygotes, with an SMN1 exon 7 deletion on one chromosome and a sequence variant in SMN1 on the other chromosome resulting in zero functional copies. Please note, this analysis does not detect other variants in SMN1 including sequence variants, rearrangements, or other deletions and duplications not involving exon 7.

SMN2 copy number has relevance in the setting of individuals with zero functional copies of SMN1 and can act as a disease modifier. Most patients with SMA type I have two or less copies of SMN2, three SMN2 copies are common in patients with SMA type II, and patients with SMA type III presentations often have 3 or 4 copies of SMN2. SMN2 copy number analysis must be interpreted with caution as other modifiers of disease severity have been reported. 

When two copies of SMN1 exon 7 are detected for SMA carrier testing, the presence of the SMN1 c.3+80T>G and/or c.*211_212del gene duplication variants are assessed. This test cannot definitively differentiate between individuals with two copies of SMN1 on one chromosome and zero copies on the other chromosome (silent carrier) from individuals having one copy on each chromosome (non-carrier). The presence of a SMN1 c.*3+80T>G and/or c.*211_212del gene duplication variant is associated with an increased risk of being a silent carrier, but the absence of the gene duplication variant does not preclude the possibility of being a silent carrier. For individuals undergoing carrier testing, a population specific post-test carrier risk estimates table is provided for those who carry two or more SMN1 exon 7 copies.

This test detects the copy number of exon 7 of the SMN1 gene, and will report both homozygous and heterozygous deletions to identify carriers of Spinal Muscular Atrophy (SMA) as well as affected individuals. This test will also report SMN2 copy number. Diagnostic samples are performed as a STAT test, with expected result turnaround time of 7 days or less. If sending a diagnostic sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

Autosomal recessive spinal muscular atrophy (SMA) is associated with having zero functional copies of SMN1. SMN1 exon 7 is absent in ~96% of patients with SMA, whereas most unaffected individuals have two or more functional SMN1 copies. Additionally, ~3–4% of patients with SMA are compound heterozygotes, with an SMN1 exon 7 deletion on one chromosome and a sequence variant in SMN1 on the other chromosome resulting in zero functional copies. Please note, this analysis does not detect other variants in SMN1 including sequence variants, rearrangements, or other deletions and duplications not involving exon 7.

SMN2 copy number has relevance in the setting of individuals with zero functional copies of SMN1 and can act as a disease modifier. Most patients with SMA type I have two or less copies of SMN2, three SMN2 copies are common in patients with SMA type II, and patients with SMA type III presentations often have 3 or 4 copies of SMN2. SMN2 copy number analysis must be interpreted with caution as other modifiers of disease severity have been reported. 

When two copies of SMN1 exon 7 are detected for SMA carrier testing, the presence of the SMN1 c.3+80T>G and/or c.*211_212del gene duplication variants are assessed. This test cannot definitively differentiate between individuals with two copies of SMN1 on one chromosome and zero copies on the other chromosome (silent carrier) from individuals having one copy on each chromosome (non-carrier). The presence of a SMN1 c.*3+80T>G and/or c.*211_212del gene duplication variant is associated with an increased risk of being a silent carrier, but the absence of the gene duplication variant does not preclude the possibility of being a silent carrier. For individuals undergoing carrier testing, a population specific post-test carrier risk estimates table is provided for those who carry two or more SMN1 exon 7 copies.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Specify in the lab order if this is for “Carrier” or “Diagnostic” testing. For questions, please call (614) 722-5321.

This test detects the copy number of exon 7 of the SMN1 gene, and will report both homozygous and heterozygous deletions to identify carriers of Spinal Muscular Atrophy (SMA) as well as affected individuals. This test will also report SMN2 copy number. Diagnostic samples are performed as a STAT test, with expected result turnaround time of 7 days or less. If sending a diagnostic sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

Autosomal recessive spinal muscular atrophy (SMA) is associated with having zero functional copies of SMN1. SMN1 exon 7 is absent in ~96% of patients with SMA, whereas most unaffected individuals have two or more functional SMN1 copies. Additionally, ~3–4% of patients with SMA are compound heterozygotes, with an SMN1 exon 7 deletion on one chromosome and a sequence variant in SMN1 on the other chromosome resulting in zero functional copies. Please note, this analysis does not detect other variants in SMN1 including sequence variants, rearrangements, or other deletions and duplications not involving exon 7.

SMN2 copy number has relevance in the setting of individuals with zero functional copies of SMN1 and can act as a disease modifier. Most patients with SMA type I have two or less copies of SMN2, three SMN2 copies are common in patients with SMA type II, and patients with SMA type III presentations often have 3 or 4 copies of SMN2. SMN2 copy number analysis must be interpreted with caution as other modifiers of disease severity have been reported. 

When two copies of SMN1 exon 7 are detected for SMA carrier testing, the presence of the SMN1 c.3+80T>G and/or c.*211_212del gene duplication variants are assessed. This test cannot definitively differentiate between individuals with two copies of SMN1 on one chromosome and zero copies on the other chromosome (silent carrier) from individuals having one copy on each chromosome (non-carrier). The presence of a SMN1 c.*3+80T>G and/or c.*211_212del gene duplication variant is associated with an increased risk of being a silent carrier, but the absence of the gene duplication variant does not preclude the possibility of being a silent carrier. For individuals undergoing carrier testing, a population specific post-test carrier risk estimates table is provided for those who carry two or more SMN1 exon 7 copies.