Legius Syndrome

Legius syndrome is characterized by multiple pigmented skin lesions and overlaps clinically with neurofibromatosis 1 (NF1). Genetic testing of SPRED1 is necessary to confirm the diagnosis of Legius syndrome.

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Quick Reference

Test Code	5724
Turnaround Time (TAT)	14-21 days
Number of Genes	1

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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 Secondary Findings and SNP Array tests

Mutation Detection Rate

This test can detect >99.9% of described mutations in SPRED1, when present (analytic sensitivity).

Test Description

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified by agarose gel electrophoresis. Polymerase chain reaction (PCR) is used to selectively amplify regions of gDNA corresponding to SPRED1 followed by double stranded sequencing in sense and antisense directions to detect sequence variations. Gross deletion/duplication analysis is performed using the multiplex ligation-dependent probe amplification (MLPA) kit.

SPRED1 exons 1-7 plus at least 20 bases into the 5’ and 3’ ends of all the introns are analyzed Human Gene Mutation Database (HGMD). Online search engines (e.g. PubMed) and the SPRED1 (ARUP) database are used to search for previously described SPRED1 mutations and polymorphisms. Sequence analysis is based on the following NCBI reference sequence: SPRED1 - NM_152594.2.

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Quick Reference

Test Code	5724
Turnaround Time (TAT)	14-21 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 Secondary Findings 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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Legius Syndrome

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