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Genetica moleculara

Ghidul specialistului / Genetica moleculara

RETARD MENTAL 

1. Sindrom X fragil, FMR1
2. Sindrom Prader-Willi, SNRPN
3. Sindrom Angelman, SNRPN
4. PWS/AS tip mutatie (UPD, deletie)
5. Secventierea UBE3A  in sindromul Angelman, UBE3A
6. Sindrom Rett, MECP2
7. Sindrom Coffin-Lowry, RSK2
8. Retard mental legat de cromozomul X; cuplare familiala
9. Sindrom Sotos, NSD1

BOLI NEURODEGENERATIVE

 1. Coreea Huntington, HD15
 2. Ataxie spinocerebeloasa tip 1, ATX1
 3. Ataxie spinocerebeloasa tip 2, ATX2
 4. Ataxie spinocerebeloasa tip 3, Machado-Joseph, ATX3
 5. Ataxie spinocerebeloasa tip 6, CACNA1A
 6. Ataxie spinocerebeloasa tip 7, SCA7
 7. Ataxie spinocerebeloasa tip 8, SCA8
 8. Ataxia Friedereich, FRDA
 9. Neuropatie motorie si senzitiva ereditara, HMSN1A, CMT1A,  Duplicatii, PMP22
10. HMSN  mutatii punctiforme PMP 22
11. Sceloraza laterala amiotrofica familiala, SOD1
12. Displazia Dentato rubro palido luisiana, DRPLA
13. APO E4/ risc Alzheimer , APOE
14. Boala familiala Alzheimer, AD3/PSEN1

BOLI NEUROMUSCULARE

1. Distrofie musculara Duchenne/Becker, Screening pentru deletie, DMD/BMD
2. DMD diagnostic de purtator/Analiza cuplului, DMD-cuplu
3. DMD PCR quantitativ/duplicatie si diagnostic de purtator, DMD
4. DMD SSCP- analiza (secventiere - daca este neccesar), DMD
5. Atrofie spinala musculara tip I-III, SMN1
6. Atrofie spinobulbara musculara Kennedy, AR
7. Distrofie miotonica, DMPK 
8. Mioadenilat dezaminaza, AMPD1
9. Sindrom Barth, TAZ 

BOLI TUMORALE

1. Polipoza familiala adenomatoasa, Instabilitatea microsatelitilor, 
   (BAT26, BAT40, APC, D17S250, D2S113), APC
2. Melanom familal malign, p16/CDKN2A
3. Neoplazia endocrina multipla, ( MEN2A si 2B), RET
4. Sindrom Li-Fraumeni, p53
5. Mixom Cardiac, complex Carney tip 1, PRKAR1A

6. BRC-ABK translocatie in CML

7. BRCA 1 + BRCA 2

INFERTILITATE

1. Factor de azoospermia, DAZ
2. Disgenezie gonadala, regiunea determinanta a sexului, SRY
3. Mutatii CFTR
4. Aplazie congenitala bilaterala vas deferens, CBAVD, CFTR, IVS8-5T

METABOLISM

 1. Factor de azoospermia, DAZ
 2. Disgenezie gonadala, regiunea determinanta a sexului, SRY
 3. Mutatii CFTR
 4. Aplazie congenitala bilaterala vas deferens, CBAVD, CFTR, IVS8-5T
 5. Deficienta Alfa 1-antitripsina, PI
 6. Fenilcetonuria, PAH
 7. Boala Wilson, ATP7B
 8. Fibroza chistica, mucoviscidoza, CFTR
 9. Fibroza chistica, DHPLG, CFTR
10. Fibroza chistica, secventiere, CFTR
11. Sindrom Adrenogenital, AGS, CYP21
12. Adrenoleucodistrofie /Adrenomielinoneuropatie, ALD/AMN
13. Hemocromatoza, HFE
14. Acetil-Coa Dehidrogenaza lant mediu, ACADM
15. Sindrom de deficienta la Lactoza  (LCT), LPH

COAGULARE

1. Tromboza, factor V Leiden, F5
2. Tromboza, factor V Cambridge, F5
3. Tromboza, prothrombine-gene, F2
3. Hiperhomocisteinernia, MTHFR
4. Plasminogen activator inhibitor, PAI 1 and 2, PAI1, PAI2
5. Protein C secventa, PROC
6. Protein S secventa, PROS1
7. Deficienta de antitrombina III, AT3 

ALTE ANALIZE

 1. Sindrom Williams-Beuren / stenoza aortica supravalvulara, ELN
 2. Beta-thalassemia, anemia falciforma, HBB
 3. Pancreatitia cronica/ tripsinogen cationic, PRSS1
 4. Febra mediteraneana familiala, MEFV
 5. Sindrom Holt-Oram, TBX5
 6. Noonan’s syndrome, PTPN11
 7. Acondroplazia / Hipocondroplazia, FGFR3
 8. Maladia Meulengrachts, UGT1A1
 9. UPD 2, 7, 11, 14, 15, 16 si 22
10. UPD 2, 6, 7, 8, 11, 13 si 15
11. Hipertermie maligna, receptor rianodina, RYR1

RISC DE AFECTIUNE

 1. Hiperlipidemia, boala Alzheimer, APOE
 2. Hipercolesterolemia, APOB-100
 3. Angiotensinconvertaza , ACE-ID
 4. Polimorfismul receptorului pentru Vitamin D, VDR 
 5. Osteoporoza, COL1A1 polimorfism, COL1A1
 6. Atac cerebral juvenil, PON1 
 7. Hipertensiune arteriala, AGT M235T polimorfism, AGT
 8. Rezistenta HIV , CCR5
 9. HLA A, B, DR, DQ
10. Boala celiaca asociata cu alela HLA
11. Narcolepsia asociata cu alela HLA

BOLI EREDITARE MITOCHONDRIALE

1. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ( MELAS), MTT
2. Mitochondrial (mt-) tRNA ( MTT )
3. Myoclonic epilepsy with ragged-red fibers (MERRF), MTTL1, MTTK, MTTS1

FARMACOCINETICA

1. Toxicitate Fluouracil  (exon 14-skipping mutation), DPYD
2. Glutathione S-Transferaza TI/M1, GSTM