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Linea Vita tests 150 genes and lets you know whether you are a carrier of genetic variants that may affect your child.This advanced information is vital for your family planning.

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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