Partial analysis of the MUT gene

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Analyzes
Genetic research
Gene research in hereditary diseases

Partial analysis of the MUT gene (Selected) —
Aarskog-Scott syndrome, FGD1 m—
Achondrogenesis of SLC26A2 m—
Achondroplasia, FGFR3 h.m—
Acrodermatitis enteropathic 4.82.9 SLC39A4 m—
Alstrom syndrome ALMS1 'hot.' uch. m—
Alzheimer's disease - research—
Amyotrophic lateral sclerosis VAPB gene part m—
Andersen syndrome, KCNJ2 m—
Antley-Bixler syndrome, in exon 9 of the FGFR2 m gene—
Aper syndrome, FGFR2 h.m—
Aphasia primary progressive gene GRN m—
Art syndrome, PRPS1 m—
Arthrogryposis distal, MYH3 h.m—
Atelosteogenesis, SLC26A2 m—
Autoimmune lymphoproliferative syndrome, TNFRSF6 m gene—
Autoimmune lymphoproliferative syndrome. Search for mutations in the 'hot' regions of the TNFRSF6 gene—
Banayan-Riley-Ruwalbak syndrome PTEN m—
Barth syndrome, TAZ m—
Best's disease, the BEST1 m gene—
Bjornstad syndrome, BCS1L m gene—
Bloch-Sulzberger syndrome IKBKG h.m—
Bowen-Conradi syndrome EMG1 m—
Brachydactyly type B1, ROR2 m—
Burt-Hogg-Dube syndrome, FLCN m gene—
CINCA syndrome, NLRP3 m gene—
Carnitine deficiency systemic primary, SLC22A5 m—
Carpenter's syndrome RAB23 m—
Centronuclear myopathy - research—
Cerebrooculofacioskeletal syndrome, ERCC6 m gene—
Chondrocalcinosis ANKH m—
Chondrodysplasia metaphysical type of Mccusick gene RMRP m—
Choroidal dystrophy PRPH2 m—
Choroideremia, CHM m—
Chronic granulomatous disease, CYBB m—
Coccain syndrome, ERCC6 m gene—
Coffin-Lowry syndrome RPS6KA3 m—
Complete GCDH gene Analysis—
Complete analysis of the OTS gene—
Congenital central hypoventilation syndrome PHOX2B h m—
Congenital glaucoma, CYP1B1 m—
Congenital insensitivity to pain with anhidrosis, NTRK1 m—
Congenital myopathy, ITGA7 m gene—
Conradi-Hunermann point Chondrodysplasia EBP m—
Costello syndrome HRAS m—
Cowden's disease PTEN m gene—
Craniometaphyseal dysplasia - research—
Craniosynostosis - research—
Creutzfeld-Jakob disease, PRNP m—
Crouzon syndrome with black acanthosis. Search for mutations in exon 10 of the FGFR3 gene—
Cruson syndrome, in exons 7 and 9 of the FGFR2 m gene—
Cystic fibrosis, CFTR h.m—
Diamond-Blackfen anemia, RPS19 m—
Diastrophic dysplasia, SLC26A2 m—
Dilated cardiomyopathy - a study—
Disease of periodic muscle spasms, CAV3 m gene—
Distal motor neuropathy type V—
Distal motor neuropathy, type V, GARS m—
Distal spinal amyotrophy congenital with paralysis of the diaphragm, IGHMBP2 m—
Distal spinal amyotrophy, congenital, non-progressive, TRPV4 'hot.' uch. m—
ESC syndrome, NR2E3 m—
Ectodermal anhydrotic dysplasia, EDA m—
Ectodermal hydrotic dysplasia, GJB6 m—
Ellers-Danlo syndrome type VI, PLOD h.m—
Epiphyseal dysplasia - research—
Erythroceratodermy - research—
Erythroderma congenital ichthyosis (nebulous) - study—
Escobar syndrome, the CHRNG m gene—
Exudative vitreochoreoretinal dystrophy, NDP m gene—
Familial cold autoinflammatory syndrome NLRP3 m—
Familial hemophagocytic lymphohistiocytosis - study—
Familial periodic fever TNFRSFIA gene m—
Fatal familial insomnia, PRNP m—
Fibrodysplasia ossifying progressive ACVR1 - study—
Finkel's spinal amyotrophy VAPB m—
Finkel's spinal amyotrophy VAPB part m—
Frequent mutation in the ACADM gene—
Frequent mutation in the BTD gene—
Frequent mutation in the GCDH gene—
Frequent mutation in the HADHA gene—
Frequent mutations in the FAH gene—
Friedreich's Ataxia - Research—
Full analysis of the FAH gene—
Gallervorden-Spatz disease, PANK2 h.m—
✚ Genetic studies for optic nerve atrophy—
Gerstmann-Streussler-Scheinker disease, PRNP m—
Glomeruocytosis of hypoplastic kidney type HNF1B m—
Greig syndrome, GLI3 m—
Griscelli syndrome, RAB27A m gene—
Heliophysical dysplasia (diagnosis)—
Hemophilia, factor 9 in hemophilia in m—
Hereditary angioedema, C1NH m gene—
Hereditary lymphedema 4.73.18.2 GJC2 m—
Hereditary neuropathy with susceptibility to paralysis from compression, RMR22 m—
Hereditary neuropathy with susceptibility to paralysis from compression. Analysis of the number of copies of the RMR22 gene—
Hermanski-Pudlak syndrome HPS1 h.m—
Hippel-Lindau syndrome - research—
Holoprosencephaly, SN m—
Holt-Oram syndrome, TBX5 m—
Huntington's Chorea, IT15 h.m—
Hutchinson-Guilford Progeria LMNA m—
Hyper-IgD syndrome MVK m—
Hyper-IgD syndrome, in the 'hot' regions of the MVK m gene—
Hyper-IgM syndrome, CD40LG m—
Hyperkalemic periodic paralysis, in exons 13 and 24 of the SCN4A m gene—
Hyperkeratosis KRT1 m—
Hyperkeratosis, KRT9 m—
Hypertrophic cardiomyopathy - research—
Hypochondroplasia, FGFR3 h.m—
Hypokalemic periodic paralysis exons 12, 18, 19 of the SCN4A m gene—
Hypomyelin leukodystrophy 4.73.18.1 GJC2 m—
Hypophosphatemic vitamin-D-resistant rickets, PHEX m—
Ichthyosis bullous gene KRT2 m—
Ichthyosis vulgar, FLG part m—
Isolated growth hormone deficiency with hypogammaglobulinemia, BTK gene—
Isolated microphthalmos, GDF6 m—
Jackson-Weiss syndrome. Search for mutations in exon 9 of the FGFR2 gene and exon 7A of the FGFR1 gene—
Joubert syndrome, Analysis of the number of copies of the NPHP1 gene—
Juvenile open-angle glaucoma, CYP1B1 m—
Keratitis-ichthyosis-hearing loss syndrome, GJB2 m gene—
Klippel-Feil syndrome GDF6 m—
Knist dysplasia, Col2A1 m gene—
Kriegler-Nayyar syndrome, UGT1 m—
Lamellar ichthyosis, TGM1 m—
Laryngo-onycho-cut syndrome. Search for mutations in exon 39 of the LAMA3 gene—
Lermitt-Duclos disease PTEN m—
Ley syndrome caused by mitochondrial complex III deficiency, BCS1L m gene—
Lipodystrophy - research—
Long QT syndrome - a study—
Ludgin-Frins syndrome MED12 h.m—
Lymphedema, FLT4 m gene—
MULIBRAY nanism, TRIM37 m—
Mackle-Wells syndrome NLRP3 m—
Mandibuloacral dysplasia with lipodystrophy. Search for mutations in exons 8, 9 of the LMNA gene—
Marfan syndrome FBN1 'hot.' uch. m—
Marfan syndrome FBN1 m—
Marfan syndrome FBN1 without 'hot.' uch. m—
McLeod syndrome XK m—
Methemoglobinemia, CYB5R3 h.m—
Methylglutaconic aciduria, OPA3 m—
Mevalon aciduria 4.83.11.1 MVK m—
Microphthalmos with cataract, CRYBA4 m gene—
Mouat-Wilson syndrome, ZEB2 m gene—
Multiple exostoses - research—
Myoclonic dystonia SGCE m—
Myofibrillary desmin-dependent myopathy, DES m—
Myofibrillary myopathy - research—
Myopathy with disproportion of muscle fiber types, SEPN1 m gene—
Myotonic dystrophy - research—
Nephrotic syndrome - research—
Neutropenia, ELA2 m—
Nijmegen syndrome, NBN part m—
Non-compact left ventricular syndrome, TAZ m—
Non-infection of fontanelles - research—
Normokalemic periodic paralysis, exon 13 of the SCN4A m gene—
Norrie's disease, NDP m—
Oculocutaneous albinism, TYR m—
Oculopharyngeal muscular dystrophy, PABPN1 h.m—
Opitz-Kaveggia syndrome MED12 h.m—
Osler-Rendu-Weber syndrome ENG m—
Pallister syndrome, TBX3 m—
Pallister-Hall syndrome, GLI3 m gene—
Partial assay of the ASS gene—
Patellar nail syndrome LMX1B m—
Periodic illness - research—
Pfeiffer syndrome. Search for mutations in exons 7, 9 of the FGFR2 gene and exon 7A of the FGFR1 gene—
Phenylketonuria - research—
Polydactyly SHH m—
Polydactyly, GLI3 m gene—
Popliteal pterygium syndrome IRF6 m—
Primary hypertrophic osteoarthropathy, HPGD m gene—
Primary pulmonary hypertension, BMPR2 m gene—
Primary spontaneous pneumothorax, FLCN m gene—
Progressive bone heteroplasia, GNAS m—
Prolonged QT interval syndrome, CAV3 m—
Pseudoachondroplasia, COMP h.m—
Pseudohypoparathyroidism GNAS m—
Pseudopsevdohypoparathyroidism GNAS m—
Pseudoxanthoma elastic ABCC6 h.m—
Pseudoxanthoma elastic ABCC6 m—
Pycnodisostosis CTSK m—
Recessive erythrocytosis - research—
Recessive osteopetrosis - research—
Renal adysplasia UPK3A m—
Renal adysplasia exons 10, 11, 13, 14, 15 of the RET m gene—
Retinal abiotrophy, Franceschetti type, ABCA4 h.m—
Retinal pigment degeneration, RP2 m—
Retinoschisis RS1 m—
Rett syndrome MECP2 m—
Rhabdomyolysis, LPIN1 m gene—
Scapuloperoneal myopathy FHL1 m—
Schwachman-Diamond syndrome SBDS m—
Schwachman-Diamond syndrome SBDS1 h.m—
Sensorineural nonsyndromic hearing loss - research—
Sensory polyneuropathy - research—
Setre-Chotzen syndrome TWIST1 m—
Silver syndrome BSCL2 m—
Simpson-Golabi-Bemel syndrome GPC3 m—
Smith-Lemley-Opitz syndrome, DHCR7 m—
Spinal amyotrophy types I-IV - study—
Spinal amyotrophy types I-IV. SMN1 m . (only if there is one copy of the gene)—
Spinal amyotrophy with diaphragm paralysis, IGHMBP2 m—
Spinal amyotrophy, X-linked. UBA1 'hot.' uch. m—
Spinal bulbar amyotrophy of Kennedy, AR h.m—
Spinocerebellar ataxia - a study—
Spondylocostal dysostosis DLL3 m—
Spondyloepiphyseal dysplasia (SEDT) - study—
Spongiform encephalopathy with neuropsychic manifestations, PRNP m—
Stargardt's disease, ABCA4 h.m—
Stickler syndrome, type I, Col2A1 m—
✚ Studies in glacial motor-sensory neuropathy—
✚ Study of muscular dystrophy—
Superactivity of phosphoribosyl pyrophosphate synthetase, PRPS1 m—
Syndrome of a wide water supply of the threshold SLC26A4 m—
Syndrome of craniofacial dysmorphia-hearing loss-ulnar deviation of the hands, PAX3 m gene—
Synpolidactyly, HOXD13 m gene—
TAR RBM8A m syndrome—
Testicular feminization syndrome, AR m—
Thomsen 's Myotonia/Becker, CLCN1 h.m.—
Thrombocytopenia congenital MPL m—
Torsion dystonia - research—
Treacher-Collins-Franceschetti syndrome, TCOF1 m gene—
Trichorinophalangeal syndrome TRPS1 m—
Unferricht-Lundborg disease - research—
Violations of sex determination, SRY m—
Waardenburg syndrome, PAX3 m—
Waardenburg-Schach syndrome, EDNRB m—
Walker-Warburg syndrome, FKRP m gene—
Werner syndrome, RECQL2 m gene—
Wilson-Konovalov disease, ATP7B h.m—
Wiskott-Aldrich syndrome, WAS m—
X-coupled motor nystagmus, FRMD7 m—
X-linked agammaglobulinemia, BTK m—
X-linked lymphoproliferative syndrome - study—

Evaluation of results
Description
Preparation
Indications for use

Evaluation of results

Форма выдачи результата: указываются конкретные мутации, выявленные при секвенировании гена.

Description

Метод определения Секвенирование ДНК (DNA Sequencing).
Исследуемый материал Цельная кровь (с ЭДТА).
Исследование мутаций при частичном анализе гена MUT.

Preparation

Специальной подготовки к исследованию не требуется.

Indications for use

Метилмалоновая ацидемия.
Источник: Invitro.

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Content moderator: Vasin A. S.