Sorted By Test Name - Mayo Medical Laboratories

SEPTS
61100
SEQU
60698
the founder effect has been identified in North American HNA families. Other private duplications of
varying sizes have also been identified in affected individuals. SEPT9 is currently the only known gene
associated with HNA, although approximately 15% of HNA families do not show linkage to this gene.
Useful For: Diagnostic or predictive testing for hereditary neuralgic amyotrophy when a SEPT9
mutation has been identified in an affected family member
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Hannibal MC, Ruzzo EK, Miller LR, et al: SEPT9 gene sequencing analysis
reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology 2009 May
19;72(20):1755-1759 2. Landsverk ML, Ruzzo EK, Mefford HC, et al: Duplication within the SEPT9
gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Hum Mol Genet 2009 Apr 1;18(7):1200-1208 3. Collie AM, Landsverk ML, Ruzzo E, et al:
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. J Med Genet 2010
Sep;47(9):601-607
SEPT9 Gene, Mutation Screen
Clinical Information: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder
characterized by periods of severe pain involving the brachial plexus followed by muscle atrophy and
weakness. These recurrent episodes can also be accompanied by decreased sensation and paresthesias.
Individuals with this disease are generally symptom-free between pain attacks, though many experience
lingering effects with repeated attacks. The pain episodes are frequently triggered by physical, emotional,
or immunological stress. Less commonly, affected individuals can exhibit non-neurological features
including short stature, skin folds, hypotelorism, and cleft palate. Mutations in the SEPT9 gene cause the
clinical manifestations of HNA. There are 3 common mutations that have been reported in affected
individuals: c.-134G->C, p.R88W, and p.S93F. Additionally, a common exonic duplication attributed to
the founder effect has been identified in North American HNA families. Other private duplications of
varying sizes have also been identified in affected individuals. SEPT9 is currently the only known gene
associated with HNA, although approximately 15% of HNA families do not show linkage to this gene.
Useful For: Confirmation of a diagnosis of hereditary neuralgic amyotrophy
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Hannibal MC, Ruzzo EK, Miller LR, et al: SEPT9 gene sequencing analysis
reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology 2009 May
19;72(20):1755-1759 2. Landsverk ML, Ruzzo EK, Mefford HC, et al: Duplication within the SEPT9
gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Hum Mol Genet 2009 Apr 1;18(7):1200-1208 3. Collie AM, Landsverk ML, Ruzzo E, et al:
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. J Med Genet 2010
Sep;47(9):601-607
Sequential Maternal Screening, Part 1, Serum
Clinical Information: Maternal serum screening has historically been used in obstetric care to
identify pregnancies that may have an increased risk for certain birth defects, such as Down syndrome and
trisomy 18. Screening in the second trimester has been available in some version (ie, alpha fetoprotein
[AFP] test, triple screen, quad screen) for decades. Screening in the first trimester became an established
alternative over the last decade. More recently, sequential screening, which has an improved detection rate
as compared to either first- or second-trimester screening, has become a standard option. Sequential
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