FIV Program - Linea Vita

IATA CE TREBUIE SA STII INAINTEA UNEI PROCEDURI FIV:

Cytogenomic Medical Laboratory vă pune la dispoziție numeroase teste genetice pentru fiecare etapă a sarcinii Dvs:

Prenatal

pentru a asigura o evoluție sănătoasă a sarcinii;

Postnatal

pentru a monitoriza încă din primele zile de viață sănătatea bebelușului tău;

Linea Vita este primul si singurul test de carrier screening dezvoltat în Romania de către Cytogenomic Medical Laboratory care te ajuta sa reduci șansa transmiterii unei afecțiuni genetice copilului tău.

Știai ca peste 80% din copiii născuți cu boli genetice moștenite se nasc din părinți sănătoși, fără istoric familial?

OFERTA

CONSILIERE GENETICA GRATUITA SI 10% DISCOUNT LA TESTUL LINEA VITA*

*PREZENTATI CODUL „LINEA VITA 2023” LA RECEPTIE PENTRU DISCOUNT

Testul Linea Vita se poate efectua ideal înainte dar și în timpul sarcinii!

Health is an investment not an expense!

Nr. crt.	Disease	OMIM (disease)	Gene	OMIM (gene)
1	Acyl-CoA Dehydrogenase medium chain deficiency	201450	*ACADM*	607008
2	Acyl-CoA Dehydrogenase short chain deficiency	201470	*ACADS*	606885
3	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	202010	*CYP11B1*	610613
4	Adrenoleukodystrophy	300100	*ABCD1*	300371
5	Albinism Type 1	203100	*TYR*	606933
6	Albinism Type 2	203200	*OCA2*	611409
7	Albinism Type 3	203290	*TYRP1*	115501
8	Albinism Type 4	606574	*SLC45A2*	606202
9	Alport syndrome type 2	203780	*COL4A3*	120070
10	Alport syndrome type 2	203780	*COL4A4*	120131
11	Alport syndrome X-linked	301050	*COL4A5*	303630
12	Alstrom syndrome	203800	*ALMS1*	606844
13	Argininemia	207800	*ARG1*	608313
14	Argininosuccinic aciduria	207900	*ASL*	608310
15	Aspartylglucosaminuria	208400	*AGA*	613228
16	Ataxia telangiectasia	208900	*ATM*	607585
17	Bardet-Biedl syndrome 1	209900	*BBS1*	209901
18	Bardet-Biedl syndrome 10	615987	*BBS10*	610148
19	Bardet-Biedl syndrome 12	615989	*BBS12*	610683
20	Bardet-Biedl syndrome 13	615990	*MKS1*	609883
21	Bardet-Biedl syndrome 2	615981	*BBS2*	606151
22	Bardet-Biedl syndrome 3	600151	*ARL6*	608845
23	Bardet-Biedl syndrome 4	615982	*BBS4*	600374
24	Bardet-Biedl syndrome 9	615986	*BBS9*	615986
25	Batten disease- ceroid lipofuscinosis neuronal 2	204500	*TPP1*	607998
26	Batten disease- ceroid lipofuscinosis neuronal 3	204200	*CLN3*	607042
27	Becker Muscular dystrophy	300376	*DMD*	300377
28	Biotinidase deficiency	253260	*BTD*	609019
29	Cardiomyopathy dilated	601287	*SGCD*	601411
30	Cardiomyopathy dilated	606685	*SGCD*	601411
31	Cardiomyopathy dilated type 1X	611615	*FKTN*	607440
32	Cardiomyopathy dilated type 3B	302045	*DMD*	300377
33	Carnitine deficiency	212140	*SLC22A5*	603377
34	Cerebrotendinous xanthomatosis	213700	*CYP27A1*	606530
35	Citrullinemia	215700	*ASS1*	603470
36	COACH syndrome	212065	*PMM2*	601785
37	Combined immunodeficiency, X-linked, moderate	312863	*IL2RG*	308380
38	Congenital disorder of glycosylation, type Ib	602579	*MPI*	154550
39	Congenital disorder of glycosylation, type Ic	603147	*ALG6*	604566
40	Crigler-Najjar syndrome type 1	218800	*UGT1A1*	191740
41	Cystic fibrosis	219700	*CFTR*	602421
42	D-bifunctional protein deficiency	261515	*HSD17B4*	601860
43	Deafness, autosomal recessive 1A	220290	*GJB2*	121011
44	Deafness, autosomal recessive 1A	220290	*GJB3*	603324
45	Deafness, autosomal recessive 1B	612645	*GJB6*	604418
46	Deafness, autosomal recessive 23	609533	*PCDH15*	605514
47	Deafness, autosomal recessive 4	600791	*SLC26A4*	605646
48	Deafness, digenic GJB2/GJB6	220290	*GJB6*	604418
49	Diabetes insipidus, nephrogenic	304800	*AVPR2*	300538
50	Duchenne muscular dystrophy	310200	*DMD*	300377
51	Ectodermal dysplasia X-linked	305100	*EDA*	300451
52	Ectodermal dysplasia X-linked	249100	*MEFV*	608107
53	Enhanced S-cone syndrome	268100	*NR2E3*	604485
54	Epidermolysis bullosa dystrophica	226600	*COL7A1*	120120
55	Epidermolysis bullosa simplex, type 1	601001	*KRT14*	148066
56	Epidermolysis bullosa simplex, type 1	601001	*KRT5*	148040
57	Epidermolysis bullosa, junctional	226650	*COL17A1*	113811
58	Epidermolysis bullosa, junctional, type Herlitz	226700	*LAMB3*	150310
59	Epidermolysis bullosa, junctional, type Herlitz	226650	*LAMC2*	150292
60	Epidermolysis bullosa, junctional, type non-Herlitz	226700	*LAMC2*	150292
61	Fabry disease	301500	*GLA*	300644
62	Fragile X syndrome	300624	*FMR1*	309550
63	Fructose intolerance, hereditary	229600	*ALDOB*	612724
64	Fundus flavimaculatus	248200	*ABCA4*	601691
65	Galactosemia	230400	*GALT*	606999
66	Gaucher disease perinatal lethal	608013	*GBA*	606463
67	Gaucher disease type I	230800	*GBA*	606463
68	Gaucher disease type II	230900	*GBA*	606463
69	Gaucher disease type III	231000	*GBA*	606463
70	Gaucher disease type IIIC	231005	*GBA*	606463
71	Glutaric acidemia type 1	231670	*GCDH*	608801
72	Glycogen storage disease type 1A	232200	*G6PC*	613742
73	Glycogen storage disease type 1B	232220	*SLC37A4*	602671
74	Glycogen storage disease type II (Pompe)	232300	*GAA*	606800
75	Heimler syndrome type 1	234580	*PEX1*	602136
76	Heimler syndrome type 2	616617	*PEX6*	601498
77	Hemochromatosis	235200	*HFE*	613609
78	Hemochromatosis	604250	*TFR2*	604720
79	Hemolytic anemia due to G6PD deficiency	300908	*G6PD*	305900
80	Hemophilia A	306700	F8	300841
81	Hemophilia B	306900	F9	300746
82	HMG-CoA lyase deficiency	246450	*HMGCL*	613898
83	Holocarboxylase synthetase deficiency	253270	*HLCS*	609018
84	Homocystinuria, B6-responsive and nonresponsive types	236200	*CBS*	613381
85	Hyperinsulinemic hypoglycemia, familial, type 1	256450	*ABCC8*	600509
86	Hyperinsulinemic hypoglycemia, familial, type 2	601820	*KCNJ11*	600937
87	Hyperphenylalaninemia, BH4-deficient, A	261640	*PTS*	612719
88	Hypophosphatasia, infantile	241500	*ALPL*	171760
89	Ichthyosis, congenital, autosomal recessive 1	242300	*TGM1*	190195
90	Isovaleric acidemia	243500	*IVD*	607036
91	Joubert syndrome type 2	608091	*TMEM216*	613277
92	Joubert syndrome type 28	617121	*MKS1*	609883
93	Joubert syndrome type 7	611560	*RPGRIP1L*	610937
94	Joubert syndrome type 8	612291	*ARL13B*	608922
95	Krabbe disease	245200	*GALC*	606890
96	LCHAD deficiency	609016	*HADHA*	600890
97	Maple syrup urine disease, type 1a	248600	*BCKDHA*	608348
98	Maple syrup urine disease, type 1b	248600	*BCKDHB*	248611
99	Maple syrup urine disease, type II	248600	*DBT*	248610
100	Meckel syndrome type 1	249000	*MKS1*	609883
101	Menkes disease	309400	*ATP7A*	300011
102	Metachromatic leukodystrophy	250100	*ARSA*	607574
103	Methylmalonic aciduria (mut0)	251000	*MMUT*	609058
104	Methylmalonic aciduria and homocystinuria, type cblD	277410	*MMADHC*	611935
105	Methylmalonic aciduria, vitamin B12-responsive, type cblA	251100	*MMAA*	607481
106	Methylmalonic aciduria, vitamin B12-responsive, type cblB	251110	*MMAB*	607568
107	Mitochondrial trifunctional protein deficiency	609015	*HADHA*	600890
108	Mucolipidosis II alpha/beta	252500	*GNPTAB*	607840
109	Mucolipidosis III gamma	252605	*GNPTG*	607838
110	Mucolipidosis IV	252650	*MCOLN1*	605248
111	Mucopolysaccharidosis Ih/s	607015	*IDUA*	252800
112	Mucopolysaccharidosis II	309900	*IDS*	300823
113	Mucopolysaccharidosis type IIIA	252900	*SGSH*	605270
114	Mucopolysaccharidosis type IIIB	252920	*NAGLU*	609701
115	Mucopolysaccharidosis type IIIC	252930	*HGSNAT*	610453
116	Muscular dystrophy limb-girdle type 2C	253700	*SGCG*	608896
117	Muscular dystrophy, limb-girdle type 2D	608099	*SGCA*	600119
118	Muscular dystrophy, limb-girdle type 2E	604286	*SGCB*	600900
119	Muscular dystrophy-dystroglycanopathy, type A, 5	613153	*FKRP*	606596
120	Myotubular myopathy, X-linked	310400	*MTM1*	300415
121	Naxos/Carvajal syndrome	601214	*JUP*	173325
122	Nephrotic syndrome, type 2	600995	*NPHS2*	604766
123	Niemann-Pick disease type A	257200	*SMPD1*	607608
124	Niemann-Pick disease type C1	257220	*NPC1*	607623
125	Niemann-Pick disease type C2	607625	*NPC2*	601015
126	Nijmegen syndrome	251260	*NBN*	602667
127	Nonaka myopathy	605820	*GNE*	603824
128	Ornithine transcarbamylase deficiency	311250	*OTC*	300461
129	Phenylketonuria	261600	*PAH*	612349
130	Polycystic kidney and hepatic disease	263200	*PKHD1*	606702
131	Proprionicacidemia	606054	*PCCA*	232000
132	Proprionicacidemia	606054	*PCCB*	232050
133	Pyruvate carboxylase deficiency	266150	PC	608786
134	Retinal dystrophy, early-onset severe	248200	*ABCA4*	601691
135	Retinitis pigmentosa 19	601718	*ABCA4*	601691
136	Retinitis pigmentosa 37	611131	*NR2E3*	604485
137	Retinitis pigmentosa 39	613809	*USH2A*	608400
138	Retinitis pigmentosa 41	612095	*PROM1*	604365
139	Retinitis pigmentosa 59	613861	*DHDDS*	608172
140	Retinitis pigmentosa 61	614180	*CLRN1*	606397
141	Retinitis pigmentosa 73	616544	*HGSNAT*	610453
142	Retinitis pigmentosa 76	617123	*POMGNT1*	606822
143	Retinoschisis X-linked	312700	*RS1*	300839
144	Roberts-SC phocomelia syndrome	268300	*ESCO2*	609353
145	Sandhoff disease	268800	*HEXB*	606873
146	Segawa syndrome	605407	TH	191290
147	Severe combined immunodeficiency, X-linked	300400	*IL2RG*	308380
148	Sjogren-Larsson syndrome	270200	*ALDH3A2*	609523
149	Smith-Lemli-Opitz syndrome	270400	*DHCR7*	602858
150	Spastic ataxia, Charlevoix-Saguenay	270550	*SACS*	604490
151	Spinal muscular atrophy type 1	253300	*SMN1*	600354
152	Spinal muscular atrophy type 2	253550	*SMN1*	600354
153	Spinal muscular atrophy type 3	253400	*SMN1*	600354
154	Spinal muscular atrophy type 4	271150	*SMN1*	600354
155	STAR syndrome	201710	*STAR*	600617
156	Stargardt disease type 1	248200	*ABCA4*	601691
157	Tay-Sachs disease	272800	*HEXA*	606869
158	Thalassemia B; Sickle cell anemia	603903	*HBB*	141900
159	Thalassemia, beta	613985	*HBB*	141900
160	Tyrosinemia, type I	276700	*FAH*	613871
161	Usher syndrome type 1b,	276900	*MYO7A*	276903
162	Usher syndrome type 1c	276904	*USH1C*	605242
163	Usher syndrome type 1d	601067	*CDH23*	605516
164	Usher syndrome type 2a	276901	*USH2A*	608400
165	Usher syndrome type 3a	276902	*CLRN1*	606397
166	VLCAD deficiency	201475	*ACADVL*	609575
167	Wilson disease	277900	*ATP7B*	606882
168	Wolman disease	278000	*LIPA*	613497
169	Xeroderma pigmentosum, group A	278700	*XPA*	611153
170	Xeroderma pigmentosum, group C	278720	*XPC*	613208

Preimplantațional

Prenatal

Postnatal

Știai ca peste 80% din copiii născuți cu boli genetice moștenite se nasc din părinți sănătoși, fără istoric familial?

OFERTA CONSILIERE GENETICA GRATUITA SI 10% DISCOUNT LA TESTUL LINEA VITA*

OFERTA

CONSILIERE GENETICA GRATUITA SI 10% DISCOUNT LA TESTUL LINEA VITA*