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Nefrología

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Panel de Acidosis Tubular Renal
ATP6V1B1Renal tubular acidosis with deafness
ATP6V0A4Renal tubular acidosis, distal
CA2Osteopetrosis, with renal tubular acidosis
SLC4A1Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis
SLC4A4Renal tubular acidosis, proximal
Panel de Ciliopatía
AHI1Joubert syndrome
ALMS1Alström syndrome
ANKS6Nephronophthisis
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
ARL13BJoubert syndrome
ARMC4Ciliary dyskinesia
B9D1Meckel syndrome
B9D2Meckel syndrome
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
C5ORF42Joubert syndrome, Orofaciodigital syndrome
C21ORF59Ciliary dyskinesia
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CCDC39Ciliary dyskinesia
CCDC40Ciliary dyskinesia
CCDC65Ciliary dyskinesia
CCDC103Ciliary dyskinesia
CCDC114Ciliary dyskinesia
CCNOCiliary dyskinesia
CENPFCiliary dyskinesia -Lethal Ciliopathy
CEP41Joubert syndrome
CEP83Nephronophthisis
CEP164Nephronophthisis
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CFTRCystic fibrosis
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
DCDC2Deafness
DNAAF1Ciliary dyskinesia
DNAAF2Ciliary dyskinesia
DNAAF3Primary ciliary dyskinesia
DNAAF5Ciliary dyskinesia
DNAH5Ciliary dyskinesia
DNAH11Ciliary dyskinesia
DNAI1Ciliary dyskinesia
DNAI2Ciliary dyskinesia
DNAL1Ciliary dyskinesia
DRC1Primary ciliary dyskinesia
DYX1C1Ciliary dyskinesia
GLIS2Nephronophthisis
HYDINPrimary ciliary dyskinesia
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVSNephronophthisis
IQCB1Senior-Loken syndrome
KIAA0586Joubert syndrome, Short rib thoracic dysplasia with polydactyly
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
LRRC6Ciliary dyskinesia
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
NEK8Nephronophthisis
NME8Ciliary dyskinesia
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
NPHP4Nephronophthisis, Senior-Loken syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
RPGRRetinitis pigmentosa
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
RSPH1Ciliary dyskinesia
RSPH4ACiliary dyskinesia
RSPH9Ciliary dyskinesia
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
SPAG1Primary ciliary dyskinesia
TCTN1Joubert syndrome
TCTN2Joubert syndrome, Meckel syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM107Joubert syndrome
TMEM138Joubert syndrome
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
TMEM237Joubert syndrome
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
WDR19Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly
ZMYND10Ciliary dyskinesia
ZNF423Joubert syndrome, Nephronophthisis
Panel de Diabetes Insípida
AQP2Diabetes insipidus, nephrogenic
AVPDiabetes insipidus, neurohypophyseal
AVPR2Diabetes insipidus, nephrogenic
Panel de Disquinesia Ciliar Primaria
ARMC4Ciliary dyskinesia
C21ORF59Ciliary dyskinesia
CCDC39Ciliary dyskinesia
CCDC40Ciliary dyskinesia
CCDC65Ciliary dyskinesia
CCDC103Ciliary dyskinesia
CCDC114Ciliary dyskinesia
CCNOCiliary dyskinesia
CENPFCiliary dyskinesia -Lethal Ciliopathy
CFTRCystic fibrosis
DNAAF1Ciliary dyskinesia
DNAAF2Ciliary dyskinesia
DNAAF3Primary ciliary dyskinesia
DNAAF5Ciliary dyskinesia
DNAH5Ciliary dyskinesia
DNAH11Ciliary dyskinesia
DNAI1Ciliary dyskinesia
DNAI2Ciliary dyskinesia
DNAL1Ciliary dyskinesia
DRC1Primary ciliary dyskinesia
DYX1C1Ciliary dyskinesia
HYDINPrimary ciliary dyskinesia
INVSNephronophthisis
LRRC6Ciliary dyskinesia
NME8Ciliary dyskinesia
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
RPGRRetinitis pigmentosa
RSPH1Ciliary dyskinesia
RSPH4ACiliary dyskinesia
RSPH9Ciliary dyskinesia
SPAG1Primary ciliary dyskinesia
ZMYND10Ciliary dyskinesia
Panel de Enfermedad del Riñón Poliquístico
DNAJB11Autosomal dominant polycystic kidney disease
DZIP1LPolycystic kidney disease 5
GANAB
Polycystic kidney and/or polycystic liver disease 3
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
JAG1Alagille syndrome
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
NOTCH2Alagille syndrome, Hajdu-Cheney syndrome
PKD1Polycystic kidney disease
PKD2Polycystic kidney disease
PKHD1Polycystic kidney disease
PRKCSHPolycystic liver disease
SEC63Polycystic liver disease
Panel de Enfermedades Quísticas del Riñón
BICC1Renal dysplasia, cystic
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
PAX2Isolated renal hypoplasia, Papillorenal syndrome
PKD1Polycystic kidney disease
PKD2Polycystic kidney disease
PKHD1Polycystic kidney disease
SIX5Branchiootorenal syndrome
UMODFamilial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Panel de Hiperoxaluria Primaria
AGXTHyperoxaluria
GRHPRHyperoxaluria
HOGA1Hyperoxaluria
Panel de Hipertensión Arterial Pulmonar
Panel de Hipomagnesemia
CLDN16Hypomagnesemia, renal
CLDN19Hypomagnesemia, renal
CNNM1Hypomagnesemia
CNNM2Hypomagnesemia, renal
CNNM4Jalili syndrome
EGFHypomagnesemia, renal
FXYD2Hypomagnesemia, renal
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
KCNA1Episodic ataxia/myokymia syndrome
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia
MMGT1Hypomagnesemia
NIPA2Hypomagnesemia
SLC12A3Gitelman syndrome
SLC41A2Hypomagnesemia
SLC41A3Hypomagnesemia
TRPM6Hypomagnesemia, intestinal
TRPM7Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Panel de Malformaciones Renales
ACEACE serum levels, Renal tubular dysgenesis
BMP4Microphthalmia, syndromic, Orofacial cleft
DSTYKCongenital anomalies of the kidney and urinary tract
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
FANCBFanconi anemia
FOXC2Lymphedema-distichiasis syndrome
FREM1Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly
GATA3Hypomagnesemia, renal
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
PAX2Isolated renal hypoplasia, Papillorenal syndrome
RENHyperuricemic nephropathy
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SIX1Branchiootic syndrome, Branchiootorenal syndrome, Deafness
SIX5Branchiootorenal syndrome
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor
Panel de Nefronoptisis
ANKS6Nephronophthisis
CEP83Nephronophthisis
CEP164Nephronophthisis
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
DCDC2Deafness
GLIS2Nephronophthisis
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
INVSNephronophthisis
IQCB1Senior-Loken syndrome
NEK8Nephronophthisis
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
NPHP4Nephronophthisis, Senior-Loken syndrome
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
WDR19Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly
ZNF423Joubert syndrome, Nephronophthisis
Panel de Obesidad Monogénica
ALMS1Alström syndrome
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CRTC1Mucoepidermoid salivary gland carcinoma
CUL4BMental retardation, syndromic, Cabezas
DYRK1BAbdominal obesity-metabolic syndrome
GNASAlbright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism
LEPLeptin deficiency
LEPRLeptin receptor deficiency
MAGEL2Schaaf-Yang syndrome (Prader-Willi-like syndrome)
MC3RObesity due to MC3R deficiency
MC4RObesity
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
NR0B2Obesity, mild, early-onset
NTRK2Obesity, hyperphagia, and developmental delay
PCSK1Proprotein convertase 1/3 deficiency
PHF6Borjeson-Forssman-Lehmann syndrome
POMCProopiomelanocortin deficiency
PPARGInsulin resistance, Lipodystrophy, familial, partial
PYYObesity
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
SIM16q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndrome
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
UCP3Obesity, severe, and type II diabetes
VPS13BCohen syndrome
WDPCPBardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier
Panel de Pseudohipoaldosteronismo
CUL3Pseudohypoaldosteronism
HSD11B2Cortisol 11-beta-ketoreductase deficiency
KLHL3Pseudohypoaldosteronism
NR3C2Hypertension, early-onset, with exacerbation in pregnancy, Pseudohypoaldosteronism
SCNN1ABronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism
SCNN1BBronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism
SCNN1GBronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism
WNK1Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism
WNK4Pseudohypoaldosteronism
Panel de Raquitismo Hipofosfatémico
CLCN5Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
DMP1Hypophosphatemic rickets
ENPP1Arterial calcification, Hypophosphatemic rickets
FAHTyrosinemia
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
KLTumoral calcinosis, hyperphosphatemic
PHEXHypophosphatemic rickets
SLC34A1Fanconi renotubular syndrome, Nephrolithiasis/osteoporosis, hypophosphatemic
SLC34A3Hypophosphatemic rickets with hypercalciuria
VDRVitamin D-dependent rickets
Panel de Síndrome de Alport
CD151Raph blood group
COL4A3Alport syndrome
COL4A4Alport syndrome
COL4A5Alport syndrome
COL4A6Deafness, with cochlear malformation
MYH9Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome
Panel de Síndrome de Bardet-Biedl
ALMS1Alström syndrome
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
Panel de Síndrome de Bartter
BSNDBartter syndrome, Sensorineural deafness with mild renal dysfunction
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CLCNKABartter syndrome
CLCNKBBartter syndrome
GNA11Hypocalcemia, Hypocalciuric hypercalcemia
KCNJ1Bartter syndrome, antenatal
SLC12A1Bartter syndrome, antenatal
SLC12A3Gitelman syndrome
Panel de Síndrome Branquio-Oto-Renal
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
SIX1Branchiootic syndrome, Branchiootorenal syndrome, Deafness
SIX5Branchiootorenal syndrome
TFAP2ABranchiooculofacial sydrome
Panel de Síndrome de Joubert
AHI1Joubert syndrome
ARL13BJoubert syndrome
B9D1Meckel syndrome
B9D2Meckel syndrome
C5ORF42Joubert syndrome, Orofaciodigital syndrome
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CEP41Joubert syndrome
CEP164Nephronophthisis
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KIAA0586Joubert syndrome, Short rib thoracic dysplasia with polydactyly
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
TCTN1Joubert syndrome
TCTN2Joubert syndrome, Meckel syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM107Joubert syndrome
TMEM138Joubert syndrome
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
TMEM237Joubert syndrome
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
ZNF423Joubert syndrome, Nephronophthisis
Panel de Síndrome de Liddles
SCNN1BBronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism
SCNN1GBronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism
Panel de Síndrome de Meckel
B9D1Meckel syndrome
B9D2Meckel syndrome
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
TCTN2Joubert syndrome, Meckel syndrome
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
Panel de Síndrome Nefrótico
ACTN4Focal segmental glomerulosclerosis
ADCK4Nephrotic syndrome
ANLNFocal segmental glomerulosclerosis
APOL1Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ARHGAP24Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ARHGDIANephrotic syndrome
CD2APGlomerulosclerosis, focal segmental
COL4A3Alport syndrome
COL4A4Alport syndrome
COL4A5Alport syndrome
COQ2Coenzyme Q10 deficiency
CRB2Focal segmental glomerulosclerosis, Ventriculomegaly with cystic kidney disease
DGKENephrotic syndrome
EMP2Nephrotic syndrome
INF2Charcot-Marie-Tooth disease, Glomerulosclerosis
ITGA3Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
LAMB2Nephrotic syndrome, Pierson syndrome
LMX1BNail-patella syndrome
MYH9Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome
MYO1EFocal segmental glomerulosclerosis
NPHS1Nephrotic syndrome
NPHS2Nephrotic syndrome
PLCE1Nephrotic syndrome
PTPRONephrotic syndrome
SCARB2Epilepsy, progressive myoclonic
SMARCAL1Schimke immunoosseous dysplasia
TRPC6Focal segmental glomerulosclerosis
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor
Panel de Síndrome de Senior-Loken
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
INVSNephronophthisis
IQCB1Senior-Loken syndrome
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
NPHP4Nephronophthisis, Senior-Loken syndrome
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
Panel de Síndrome Urémico Hemolítico
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial
C3Complement component 3 deficiency, Hemolytic uremic syndrome, atypical
CD46Hemolytic uremic syndrome, atypical
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypical
CFHComplement factor H deficiency, Hemolytic uremic syndrome, atypical
CFHR1Hemolytic uremic syndrome, atypical
CFHR2Complement system
CFHR3Hemolytic uremic syndrome, atypical
CFHR4Hemolytic uremic syndrome, atypical
CFHR5Atypical hemolytic-uremic syndrome with anti-factor H antibodies, C3 glomerulonephritis
CFIComplement factor I deficiency, Hemolytic uremic syndrome, atypical
DGKENephrotic syndrome
THBDHemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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