Fragile X-associated Disorders Genetic Testing - Clinician

Fragile X-associated Disorders

Fragile X-associated disorders (FXD) is a group of genetic conditions caused by changes in the FMR1 gene and include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). FXD can affect people in a variety of ways, causing intellectual disabilities, autism spectrum disorders, behavioral changes, imbalance, tremor, memory problems, and decreased ovarian function.

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Fragile X Syndrome Letter of Medical Necessity

Neurology Test Requisition Form

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Quick Reference

Test Code	4544
Turnaround Time (TAT)	7-14 days
Number of Genes	1

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View Specimen Requirements

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome and SNP Array tests

Mutation Detection Rate

FMR1 can detect the CGG repeat expansion with >99.9% sensitivity, when it is present (analytic sensitivity).

Test Description

Fragile X DNA Analysis includes FMR1 CGG repeat detection by a triple primed polymerase chain reaction (PCR) using a standardized kit to selectively amplify the regions of gDNA corresponding to the FMR1 promoter region followed by capillary electrophoresis for fragment size analysis. Methylation status using methylation sensitive PCR analysis (mPCR) is performed as a reflex test if PCR indicates a full mutation or a premutation (>53 repeats) allele.

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Quick Reference

Test Code	4544
Turnaround Time (TAT)	7-14 days
Number of Genes	1

Ordering Options

AmbryPort Login or create an account

Order a Sample Kit

View Specimen Requirements

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

Order Now

*excludes Exome and SNP Array tests

HGVS	HUGO Gene Name	Disease
m.583G>A	MT-TF	MELAS / MM & EXIT
m.1494C>T	MT-RNR1	DEAF
m.1555A>G	MT-RNR1	DEAF
m.1606G>A	MT-TV	AMDF
m.1644G>A	MT-TV	HCM+MELAS
m.3243A>G	MT-TL1	MELAS / LS/DMDF / MIDD / SNHL / FSGS / CPEO
m.3251A>G	MT-TL1	MELAS
m.3252A>G	MT-TL1	MELAS
m.3256C>T	MT-TL1	MELAS
m.3260A>G	MT-TL1	MMC
m.3271T>C	MT-TL1	MELAS
m.3291T>C	MT-TL1	MELAS / Myopathy / Deafness+Cognitive Impairment
m.3302A>G	MT-TL1	MM
m.3303C>T	MT-TL1	MMC
m.3460G>A	MT-ND1	LHON
m.3635G>A	MT-ND1	LHON
m.3697G>A	MT-ND1	MELAS/LS/LDYT
m.3700G>A	MT-ND1	LHON
m.3733G>A	MT-ND1	LHON
m.3890G>A	MT-ND1	Progressive encephalomyopathy / LS / optic atrophy
m.4171C>A	MT-ND1	LHON
m.4269A>G	MT-TI	FICP
m.4274T>C	MT-TI	CPEO/Motor Neuron Disease
m.4298G>A	MT-TI	CPEO / MS
m.4300A>G	MT-TI	MICM
m.4308G>A	MT-TI	CPEO
m.4332G>A	MT-TQ	Encephalopathy / MELAS
m.5537_5538insT	MT-TW	Leigh Syndrome
m.5650G>A	MT-TA	Myopathy
m.5703G>A	MT-TN	CPEO/MM
m.7222A>G	MT-CO1	peripheral neuropathy, muscle weakness, ptosis, abnormal muscle pathology
m.7445A>G	MT-TS1	SNHL
m.7471dupC	MT-TS1	PEM/AMDF/Motor neuron disease-like
m.7497G>A	MT-TS1	MM / EXIT
m.7511T>C	MT-TS1	SNHL
m.8344A>G	MT-TK	MERRF
m.8356T>C	MT-TK	MERRF
m.8363G>A	MT-TK	MICM+DEAF/ MERRF/ Autism/ LS/ Ataxia+Lipomas
m.8969G>A	MT-ATP6	Mitochondrial Myopathy, Lactic Acidosis,
m.8993T>C	MT-ATP6	NARP/Leigh Disease/MILS/other
m.8993T>G	MT-ATP6	NARP/Leigh Disease/MILS/other
m.9176T>C	MT-ATP6	FBSN/Leigh Disease
m.9176T>G	MT-ATP6	Leigh Disease/Spastic Paraplegia
m.9185T>C	MT-ATP6	Leigh Disease/Ataxia/NARP-like disease
m.10010T>C	MT-TG	PEM
m.10158T>C	MT-ND3	Leigh Disease
m.10191 T>C	MT-ND3	Leigh Disease/Leigh-like Disease/ESOC
m.10197G>A	MT-ND3	Leigh Disease/Dystonia/Stroke/LDYT
m.10663T>C	MT-ND4L	LHON
m.11777C>A	MT-ND4	Leigh Disease
m.11778G>A	MT-ND4	LHON, Progressive Dystonia
m.12147G>A	MT-TH	MERRF-MELAS/Enchephalopathy
m.12258C>A	MT-TS2	DMDF / RP+SNHL
m.12315G>A	MT-TL2	CPEO/KSS
m.12320A>G	MT-TL2	Myopatrhy
m.12706T>C	MT-ND5	Leigh Disease
m.13513G>A	MT-ND5	Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome
m.13514A>G	MT-ND5	Leigh Disease/MELAS
m.14459G>A	MT-ND6	LDYT/Leigh Disease
m.14482C>G	MT-ND6	LHON
m.14484T>C	MT-ND6	LHON
m.14487T>C	MT-ND6	Dystonia/Leigh Disease/Ataxia
m.14495A>G	MT-ND6	LHON
m.14568C<T	MT-ND6	LHON
m.14674T>C	MT-TE	Reversible COX deficiency myopathy
m.14709T>C	MT-TE	MM+DMDF / Encephalomyopathy
m.14849T>C	MT-CYB	EXIT / Septo-Optic Dysplasia
m.15579A>G	MT-CYB	Multisystem Disorder, EXIT

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