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 require. 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. For questions, please call (614) 722-5321.

This test detects the number of trinucleotide CGG repeats in the 5’-untranslated region (UTR) of the FMR1 gene.  Disorders associated with the FMR1 CGG repeat expansion include X-linked fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related primary ovarian insufficiency (POI). The American College of Medical Genetics and Genomics (ACMG) defines a normal repeat length as less than or equal to 44 CGG repeats, an intermediate/gray zone as 45-54 repeats, a premutation category as 55-200 repeats, and a full mutation as over 200 repeats. More than 99% of patients with fragile X syndrome have aberrant FMR1 methylation caused by CGG repeat expansion (typically >200 repeats).

If the patient is undergoing diagnostic testing, reflex to methylation analysis will be performed if the patient has a premutation or full mutation allele detected by repeat analysis. If the patient is undergoing carrier testing, reflex to methylation will be performed if the patient has a full mutation allele. All reflex to methylation tests will be sent to a reference lab [see test code XFRAG], and reported separately. Reflex testing will occur using the DNA stored in-house and will be processed automatically by the lab when needed. 

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 require. 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. For questions, please call (614) 722-5321.

This test detects the number of trinucleotide CGG repeats in the 5’-untranslated region (UTR) of the FMR1 gene.  Disorders associated with the FMR1 CGG repeat expansion include X-linked fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related primary ovarian insufficiency (POI). The American College of Medical Genetics and Genomics (ACMG) defines a normal repeat length as less than or equal to 44 CGG repeats, an intermediate/gray zone as 45-54 repeats, a premutation category as 55-200 repeats, and a full mutation as over 200 repeats. More than 99% of patients with fragile X syndrome have aberrant FMR1 methylation caused by CGG repeat expansion (typically >200 repeats).

If the patient is undergoing diagnostic testing, reflex to methylation analysis will be performed if the patient has a premutation or full mutation allele detected by repeat analysis. If the patient is undergoing carrier testing, reflex to methylation will be performed if the patient has a full mutation allele. All reflex to methylation tests will be sent to a reference lab [see test code XFRAG], and reported separately. Reflex testing will occur using the DNA stored in-house and will be processed automatically by the lab when needed. 

This test detects the number of trinucleotide CGG repeats in the 5’-untranslated region (UTR) of the FMR1 gene.  Disorders associated with the FMR1 CGG repeat expansion include X-linked fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related primary ovarian insufficiency (POI). The American College of Medical Genetics and Genomics (ACMG) defines a normal repeat length as less than or equal to 44 CGG repeats, an intermediate/gray zone as 45-54 repeats, a premutation category as 55-200 repeats, and a full mutation as over 200 repeats. More than 99% of patients with fragile X syndrome have aberrant FMR1 methylation caused by CGG repeat expansion (typically >200 repeats).

If the patient is undergoing diagnostic testing, reflex to methylation analysis will be performed if the patient has a premutation or full mutation allele detected by repeat analysis. If the patient is undergoing carrier testing, reflex to methylation will be performed if the patient has a full mutation allele. All reflex to methylation tests will be sent to a reference lab [see test code XFRAG], and reported separately. Reflex testing will occur using the DNA stored in-house and will be processed automatically by the lab when needed. 

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 require. 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. For questions, please call (614) 722-5321.

This test detects the number of trinucleotide CGG repeats in the 5’-untranslated region (UTR) of the FMR1 gene.  Disorders associated with the FMR1 CGG repeat expansion include X-linked fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related primary ovarian insufficiency (POI). The American College of Medical Genetics and Genomics (ACMG) defines a normal repeat length as less than or equal to 44 CGG repeats, an intermediate/gray zone as 45-54 repeats, a premutation category as 55-200 repeats, and a full mutation as over 200 repeats. More than 99% of patients with fragile X syndrome have aberrant FMR1 methylation caused by CGG repeat expansion (typically >200 repeats).

If the patient is undergoing diagnostic testing, reflex to methylation analysis will be performed if the patient has a premutation or full mutation allele detected by repeat analysis. If the patient is undergoing carrier testing, reflex to methylation will be performed if the patient has a full mutation allele. All reflex to methylation tests will be sent to a reference lab [see test code XFRAG], and reported separately. Reflex testing will occur using the DNA stored in-house and will be processed automatically by the lab when needed.