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CONSULTE AQUI A NOSSA CARTEIRA DE SERVIÇOS DE NGS, PARA O DIAGNÓSTICO GENÉTICO EM Nefrologia

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MLP1022 Hemolytic uremic syndrome
SEQ1106 Hereditary Amyloidosis
SEQ1096 Senior-Loken syndrome
SEQ9320 Prothrombin
SEQ9380 Von Hippel Lindau
SEQ8471 Elastic Pseudoxanthoma
SEQ8452 Pseudohypoaldosteronism type 1
SEQ8453 Pseudohypoaldosteronism type 1
SEQ8454 Pseudohypoaldosteronism type 2
SEQ8455 Pseudohypoaldosteronism type 2
SEQ8451 Pseudohypoaldosteronism type 1
SEQ8381 Autosomal recessive polycystic kidney disease
SEQ8340 PKD1 / PKD2 polycystic kidney disease
SEQ8338 Kidney Cystic Diseases
SEQ8321 Pierson's syndrome
SEQ7771 Opitz syndrome
SEQ7401 Nail Patella Syndrome
SEQ7418 Finnish congenital nephrosis (nephrotic syndrome type 1)
SEQ7221 Muckle-Wells syndrome
SEQ7125 Meckel syndrome
SEQ6091 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SEQ5917 Atypical Hemolytic Uremic Syndrome
SEQ5731 Renal glucosuria
SEQ5691 Gitelman syndrome
SEQ5695 Gitelman syndrome
SEQ5698 Focal segmental glomerulonephritis
SEQ5661 GM1 gangliosidosis type 1
SEQ5501 Fabry disease
SEQ5521 Fanconi-Bickel syndrome
SEQ5411 Familial Hibernian Fever (Periodic fever, autosomal dominant)
SEQ5421 Familial Mediterranean Fever
SEQ5425 Familial Mediterranean Fever
SEQ5265 Tuberous sclerosis
SEQ5266 Tuberous sclerosis
SEQ5267 Tuberous sclerosis
SEQ5061 Autosomal dominant medullary cystic disease
SEQ5062 Autosomal dominant medullary cystic disease
SEQ4556 Hemolytic uremic syndrome
SEQ3992 Dent disease
SEQ3976 Frontotemporal dementias
SEQ3991 Dent disease
SEQ3811 Pyruvate carboxylase deficiency
SEQ3683 Carnitine palmitoyltransferase II deficiency
SEQ3721 Phosphoenolpyruvate Carboxykinase Deficiency
SEQ3680 Carnitine palmitoyltransferase deficiency
SEQ3681 Carnitine palmitoyltransferase deficiency
SEQ3471 Corticosterone Methyloxidase Deficiency Type I
SEQ3362 Congenital Glycosylation Defect type 1B
SEQ3363 Congenital Glycosylation Defect type 1C
SEQ3361 Congenital Glycosylation Defect type 1A
SEQ3081 Costello syndrome
SEQ2961 Coloboma-Renal Syndrome
SEQ2881 Cystinuria
SEQ2885 Cystinuria
SEQ2871 Cystinosis
SEQ2872 Cystinuria
SEQ2821 CHARGE syndrome
SEQ2641 Calcinosis, tumor
SEQ2642 Calcinosis, tumor
SEQ2634 Bilateral striatum-pale-dentate calcinosis
SEQ2421 BRESEK syndrome
SEQ2371 BNAR syndrome
SEQ2381 Branchial-oculo-facial syndrome
SEQ2391 Branchio-oto-renal syndrome Type 1
SEQ2311 Síndrome de Birt-Hogg-Dube, mutaciones c.1285delC y c.1285dupC gen FLCN Birt-Hogg-Dube syndrome, c.1285delC and c.1285dupC mutations FLCN gene
SEQ2312 Birt-Hogg-Dube syndrome
SEQ2281 NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome
SEQ2251 Bartsocas-Papas syndrome
SEQ2261 Bartter syndrome
SEQ2263 Bartter syndrome type 4A
SEQ2265 Bartter syndrome type 2
SEQ2011 Kidney, interstitial, lung and joint autoimmune disease
SEQ1781 Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing
SEQ1573 Finnish-type familial amyloidosis
SEQ1578 Familial Amyloidosis
SEQ1571 Familial amyloidosis, p.Val50Met (V30M) TTR gene mutation
SEQ1572 Familial Amyloidosis
SEQ1501 Universal alopecia
SEQ1511 Alport syndrome
SEQ1513 Alport syndrome
SEQ1514 Alport syndrome
SEQ1515 Alport syndrome (X-linked)
SEQ1391 Renal agenesis
SEQ1388 Hereditary kidney diseases (basic study)
SEQ1281 Dominant Distal Renal Tubular Acidosis
SEQ1282 Dominant Distal Renal Tubular Acidosis
SEQ1273 Propionic acidemia
SEQ1072 DICER1 Syndrome
SEQ1074 Glow Syndrome (Tissue Mosaicism)
MLP3441 Malignant rhabdoid tumor
MLP3321 Smith-Magenis syndrome
MLP3031 Pseudoxanthoma elasticum
MLP3051 kidney cysts and diabetes
MLP2991 Autosomal dominant polycystic kidney disease
MLP2992 Autosomal recessive polycystic kidney disease
MLP2801 Opitz syndrome
MLP2701 Nail Patella syndrome
MLP2711 Nephronophthisis 1 / Joubert syndrome type 4
MLP2131 X-linked hypophosphatemia
MLP1950 Mediterranean fever family
MLP1980 MLPA:Gitelman syndrome
MLP1831 Tuberous sclerosis 1
MLP1832 Tuberous sclerosis 2
MLP1870 Fabry disease
MLP1453 Charcot-Marie-Tooth disease type 4
MLP1231 Birt-Hogg-Dube syndrome
MLP1201 Bartter 3 syndrome
MLP1096 FANCA
MLP1051 Alport syndrome/ Hereditary nephritis
EXN1145 Kidney malformations
EXN1116 Meckel syndrome
EXN1119 Nephrotic syndrome/Glomerulosclerosis
EXN1103 Alport syndrome
EXN1095 Pseudohypoaldosteronism
EXN1076 Bartter syndrome and pathologies associated to hydroelectrolytic disorders
EXN1059 Amyloidosis
As referências SEQ correspondem a estudos realizados utilizando o NIMSeq®
As referências EXN correspondem a estudos realizados com ExoNIM®

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