NIMGenetics offers genetic testing services based on different molecular biology techniques, including MLPA (Multiplex Ligation-dependent Probe Amplification) and TRP-PCR to test for triplet repeat expansions. We also offer specialists massive parallel sequencing and MLPA techniques to detect genetic alterations in the mitochondrial DNA.
MLPA (Multiplex Ligation-dependent Probe Amplification) is a technique designed to detect amplifications and deletions in specific genomic regions, with exon-level resolution in the genes being analysed.
In addition to detecting amplifications and deletions, Methylation-specific MLPA (MS-MLPA) allows modifications in the methylation pattern to be identified.
For a comprehensive approach, mitochondrial DNA testing can be complemented by the next-generation sequencing of nuclear genes, which code for proteins related to mitochondrial metabolism.
Para We therefore offer diagnosis using ExoNIM®, targeting mitochondrial alterations secondary to nuclear DNA mutations.
Reference |
Disease |
|---|---|
| MIT1503 | Aminoglycoside-induced sensorineural deafness |
| MIT1103 | Aminoglycoside-induced sensorineural deafness |
| MIT1302 | Common Mitochondrial Encephalopathy: Leigh , MELAS, MERRRF |
| MIT1101 | Common mitochondrial myopathies (CPEO or KSS) |
| MIT1402 | Common mitochondrial myopathies (CPEO, KSS) |
| MIT1501 | Leber's optic neuropathy (LOHN) |
| MIT1301 | Leigh syndrome Mitochondrial Encephalopathy |
| MIT1105 | MERRF syndrome |
| MIT1202 | Mitochondrial Cardiopathies |
| MIT1001 | Mitochondrial DNA |
| MIT1305 | Mitochondrial encephalopathies, MT-TK |
| MIT1304 | Mitochondrial Encephalopathy, MT-TL1 |
| MIT1303 | Mitochondrial Encephalopathy, other |
| MIT1401 | Mitochondrial myopathies |
| MIT1201 | Most common Mitochondrial Cardiopathies |
| MIT1502 | Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)/Leber's optic neuropathy (LOHN) |
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NIMGenetics offers specialists Sanger Sequencing for genetic testing in three different scenarios. Learn more.
TRP-PCR (Triplet Repeat Primed PCR) to test for triplet repeat expansions, a group of dynamic mutations mainly associated with neurodegenerative diseases.
Turnaround time: Check.
Reference: Check here
Please remember to attach the Application Form and Informed Consent Form to the sample..
Reference |
Disease |
|---|---|
| TRP1019 | Amyotrophic Lateral Sclerosis |
| TRP1406 | DENTATO-RUBRO-PALIDO-LUISIANA ATROPHY (DRPLA) |
| TRP1501 | Fragile X syndrome |
| TRP1101 | Friedreich Ataxia |
| TRP1401 | Hungtington's disease |
| TRP1202 | Myotonic dystrophy type 2 / Proximal myotonic myopathy |
| TRP1201 | Myotonic dystrophy type I (STEINERT) |
| TRP1018 | Oculopharyngeal muscular dystrophy |
| TRP1016 | ONDINE-HIRSCHSPRUNG disease |
| TRP1301 | Premature ovarian failure |
| TRP1015 | Spinal and bulbar muscular atrophy/Kennedy's disease |
| TRP1002 | Spinocerebellar ataxia TYPE 1 (SCA1) |
| TRP1007 | Spinocerebellar ataxia TYPE 10 (SCA10) |
| TRP1008 | Spinocerebellar ataxia TYPE 12 (SCA12 |
| TRP1009 | Spinocerebellar ataxia TYPE 17 (SCA17) |
| TRP1003 | Spinocerebellar ataxia TYPE 2 (SCA2) |
| TRP1004 | Spinocerebellar ataxia TYPE 3 (SCA3) |
| TRP1010 | Spinocerebellar ataxia TYPE 31 (SCA31) |
| TRP1011 | Spinocerebellar ataxia TYPE 36 (SCA36) |
| TRP1021 | Spinocerebellar Ataxia TYPE 37 |
| TRP1005 | Spinocerebellar ataxia TYPE 6 (SCA6) |
| TRP1006 | Spinocerebellar ataxia TYPE 7 (SCA7) |
| TRP1001 | Spinocerebellar ataxia TYPES 1,2,3,6,7 (SCA1,2,3,6,7) |
| TRP1012 | Spinocerebellar Ataxia TYPES 1,2,3,6,7,10,12,17,31,36 (SCA1,2,3,6,7,10,12,17,31,36) |
| TRP1017 | Spinocerebellar ataxia With neuropathy and bilateral vestibular areflexia (CANVAS) |
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