Referência |
Doença |
|---|---|
| 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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