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Test Code | 5724 |
Turnaround Time (TAT) | 14-21 days |
Number of Genes | 1 |
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
This test can detect >99.9% of described mutations in SPRED1, when present (analytic sensitivity).
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.
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 |