Ca urmare a preocuparilor constante a societatii noastre de a imbunatati calitatea serviciilor oferite am decis sa masuram gradului de satisfactie a clientilor nostri.

De aceea, va rugam sa completati Acest Formular

CHESTIONAR

Genetica moleculara

  • Acil-CoA-dehidrogenaza lanturi medii (ACADM)
  • Acondroplazia/Hipocondroplazia (FGFR3)
  • Adrenoleucodistrofie/adrenomieloneuropatie (ALD/AMN)
  • Alele HLA asociate cu boala celiaca
  • Alele HLA asociate cu narcolepsia
  • Aplazia congenitala a ductelor deferente, CBAVD (CFTR, IVS-8-5T)
  • Ataxia Friedreich (FRDA)
  • Ataxia spinocerebeloasa tip 3, Machado-Joseph (ATX3)
  • Ataxia spinocerebeloasa tip 6 (CACNA1A)
  • Ataxia spinocerebeloasa tip 7 (SCA7)
  • Ataxia spinocerebeloasa tip 8 (SCA8)
  • Ataxia spinocerebeloasa tip1 (ATX1)
  • Ataxia spinocerebeloasa tip2 (ATX2)
  • Atrofia dentatorubropalidoluisiana (DRPLA)
  • Atrofia musculara spinala tip I-III (SMN1)
  • Atrofia musculara spino-bulbara Kennedy (AR)
  • Azoospermie-factor (DAZ)
  • Beta-talasemia, Anemia cu eritrocite in secera (111313)
  • Boala Wilson (ATP7B)
  • Cariotip
  • Congestie juvenila (PON1)
  • Coreea Huntington (HD15)
  • Deficienta de mioadenilat dezaminaza (AMPD1)
  • Deficit de alfa 1-antitripsina (PI)
  • Deficit de antitrombina III (AT3)
  • Diagnosticul de purtator al DMD (DMD-cuplat)
  • Disgenezie gonadala (SRY)
  • Disomie uniparentala 2, 6, 7, 8, 11, 13 sau 15
  • Disomie uniparentala 2, 7, 11, 14, 15, 16 sau 22
  • Distrofia musculara Duchenne/Becker (screening deletii) (DMD/BMD)
  • Distrofie miotonica (DMPK)
  • DMD analiza-SSCP, secventiere (DMD)
  • DMD cantitativ PCR/duplicatii si diagnostic de purtator (DMD)
  • Enzima de conversie a angiotensinei, ACE-I/D (ACE)
  • Febra mediteraneana familiala, MEFV, FMF (MEFV)
  • Fenilcetonuria (PAH)
  • Fibroza chistica, secventiere (CFTR)
  • Glutation S-Transferaza TI/M1 (GSTM)
  • Hemocromatoza (HFE)
  • Hipercolesterolemie, APOB-100 (APOB)
  • Hiperlipidemie, Maladia Alzheimer, APOE (APOE)
  • Hipertermia maligna, receptor Ryanodin (PYR1)
  • HLA A, B, DR, DQ
  • HLA B27
  • HMSN Mutatia punctiforma a PMP22 (PMP22)
  • Intoleranta la lactoza (LCT) – (LPH)
  • Maladia Alzheimer familiala (AD3/PSEN1)
  • Maladia Meulengracht (Sindrom Gilbert) – (UGAT1A1)
  • Melanom malign familial (p16/CDKN2A)
  • MELAS, MTT – (MTT)
  • MERFF (MTTL1, MTTK, MTTS1)
  • Mixom cardiac, Complex Carrney tip I (PRKAR1A)
  • Mutatia CFTR (CFTR)
  • Mutatie punctiforma JAK2 (JAK2)
  • Neoplazia endocrina multipla, MEN2A si 2B (RET)
  • Neuropatia ereditara motorie si senzitiva, HMSN1A, CMT1A1 (PMP22)
  • Osteoporoza, COL1A1-polimorfism (COL1A1)
  • p53 (1 sonda)
  • Pancreatita ereditara/ tripsinogen cationic (PRSS1)
  • Polimorfismul receptorului pentru vitamina D (VIDR)
  • Presiune arteriala, AGT M235T-polimorfism (AGT)
  • Proteina C secventiere (PROC)
  • Proteina S secventiere (PROS1)
  • Retard mental familial (cromozomul X)
  • Rezistenta HIV (CCR5)
  • Scleroza laterala amiotrofica familiala (SOD1)
  • Sindrom adrenogenital, AGS (CYP21)
  • Sindrom Angelman (SNRPN)
  • Sindrom Angelman-secventiere (UBE3A)
  • Sindrom Barth (TAZ)
  • Sindrom Coffin Lowry (RSK2)
  • Sindrom Holt-Oram (TBX5)
  • Sindrom Noonan (PTPN11)
  • Sindrom Prader-Willi (SNRPN)
  • Sindrom Rett (MECP2)
  • Sindrom Sotos (NSD1)
  • Sindrom Williams-Beuren/Stenoza aortica supravalvulara (ELN)
  • Sindrom X – fragil (FMR1)
  • Sindromul Gardner (polipoza adenomatoasa familiala) (APC)
  • Translocatie BCR-ABL in LMC (BCR/ABL)
  • Tromboza, Factor V-Cambridge (F5)