| :: DIAGNOSTIC ANALYSIS Genetic Diseases Diagnosis
| SINGLE
GENE DISORDERS |
| Achondroplasia (FGFR3) |
| Alpha-1-Antitripsin |
| Alzheimer (PSEN1-PSEN2) |
| Alzheimer (ApoE) |
| Sickle-Cell Anemia |
| Spinocerebellar Ataxia (SCA) Type 1,2,3,6,7 |
| Friedreich Ataxia |
| Spinal Muscular Atrophy Type I (SMA1) |
| Bruton tyrosine kinase (BTK) |
| Charchot-Marie-Tooth X-Linked (CMTX1) |
| Uniparental Disomy (Prader Willi,
Angelman, Beckwith-Wiedeman, Silver-Russel) |
| Diastrophic Displasia (SLC26A2) |
| Primary Dystonia -DYT1 (dystonia
muscolorum deformans) |
| Myotonic Dystrophy (Steinert Disease) |
| Becker-Duchenne Muscular
Dystrophy (DMB-DMD) linkage |
| Becker-Duchenne Muscular Dystrophy (DMB-DMD) most
frequent deletion |
| Limb-Girdle Muscular
Dystrophy-1C(LGMD-1C)-CAV-3 |
| Limb-Girdle Muscular Dystrophy-2C-(LGMD-2C) SGCG |
| Hemocromatosis (HFE) |
| Hemophilia A |
| Hemophilia B |
| Epidermolysis Bullosa Simplex-Dowling-Meara |
| Epidermolysis Bullosa
Simplex-Weber-Cockayne |
| Epidermolysis Bullosa
Simplex-Mottled-Hyperpigmentation |
| Phenylketonuria (PAH) |
| Cystic Fibrosis-31 mutations screening |
| Cystic Fibrosis-100 mutations
screening |
| Cystic Fibrosis-200 mutations screening |
| Cystic Fibrosis total CFTR gene
screening |
| GlutaricAcidemia I (GCDH) |
| Glucose-6-Phosphate Dehydrogenase
(G6PD) |
| Gilbert Syndrome (UGT1A1) |
| Holt- Oram (TBX5) |
| Huntington Disease (HD) |
| Hypocondroplasia |
| Krabbe Disease (Galactosylceramidase-GALC) |
| Lesh-Nyhan Syndrome (HPRT1) |
| Medium Chain Acyl-CoA dehydrogense (MCAD) deficit |
| Melas Syndrome |
| Mucopolysaccharidosis -type III-(Sanfilippo Desease
MPSIII) |
| Retinitis Pigmentosa
(Rhodopsin-RHO) |
| Rett Syndrome |
| Hereditary Deafness (CX26 total
gene screning) |
| Hereditary Deafness (CX26 most frequent mutations
sreening) |
| Spinal and Bulbar Muscular
Atrophy (SBMA)129 |
| SRY (Sex Determing Region -Y) |
| Thalassemia Beta(most frequent
mutations screening) |
| Thalassemia Beta total gene screening |
| Fragil X (FRAXA-FRAXE) |
| Fragil X (FRAXA-FRAXE) total FMR1 gene screening |
| Wiskott-Aldrich Syndrome (WAS) |
| MALE
INFERTILITY SCREENING |
| Chromosome Y Deletion (AZF) |
| 5T Polymorphism of CFTR gene CAVD |
| Androgen Receptor-CAG gene |
| Androgen Receptor-CAG repeats |
| Male Infertility Panel (Cystic
Fibrosis 31m.,5T Polymorphism,Microdeletion Y) |
| OSTEOPOROSIS |
| Collagen Type I (COL1A1) |
| Vitamin D Receptor (VDR) |
| ENDOCRIN
DISORDERS |
| 21
Hidroxilase-S.A.G. |
| 5-Alpha Reductase (SRD5A) |
| Aromatase (p450) |
| Congenital Adrenal Hypoplasia-AHC
(DAX1) |
| Androgene Receptor
(AR) |
| Estrogen Receptor (ER) |
| Thyroid Hormone
Receptor (THR) |
| CARDIOVASCULAR
DISEASES |
| Angiotensin
Converting Enzyme (ACE) |
| Angiotensin Gene (AGT) |
| Factor V Leiden |
| Factor II (Prothrombin):G20210
polymorphism |
| Methylenetetrahydrofolate
reductase (MTHFR) gene:C677Tvariant |
| Methylenetetrahydrofolate reductase
(MTHFR) gene:1298 A/C variant |
| Human Platelet
Alloantigens (HPA) |
| Familial Hyperlipoproteinemia (TYPE
III) |
| Beta Fibrinogen
(FGB) 455G-A polymorphism |
| Factor XIII:VAL34LEU(V34L)polymorphism |
| Plasminogen
Activator Inhibitor 1(PA1):1-BP DEL/INS,4G/5G Mutation |
| *Thrombophilia Panel 4 mutations |
| *Hyper -Tension
Thrombophilia Panel (FV,FII,MTHFR C677T,MTHFR 1298 A/C,AGT,ACE) |
| *Thrombophilia Panel 13 mutations (FV,
FII,MTHFR C677T,MTHFR 1298A/C,ACE,AGT,Beta fibrinogen,FXIII,PAT-1,HFEH63D,HFEC282Y,
HPA,ApoE) |
| SCREENING
FOR RECURRENT ABORTIONS |
| HLA Class I and II (A,B,C,DR,DQ
loci) |
| HLA Class I (A,B,C) |
| HLA Class II (DR,DQ loci) |
| HLA (B27) Typing |
| Cross-Match |
| Autoantibodies Panel (ANA,ENA,ASMA,LAC,ACA) |
| Thrombophilia Panel (FV,
FII,MTHFR C677T,MTHFR 1298A/C ) |
| Embriotoxicity Test |
| Thrombophilia Panel 13 Mutations
(FV, FII,MTHFR C677T,MTHFR 1298A/C,ACE,AGT,Beta fibrinogen,FXIII,PAT-1,HFEH63D,HFEC282Y,
HPA,ApoE) |
| MICRODELETION
SYNDROMES |
| Prader - Willi / Angelman
(deletion in 15q11-q13 region) |
| DiGeorge (deletion in 22q11.2 region) |
| Cri du chat (deletion in 5p15.2
region) |
| Williams syndrome (deletion in 7q11.23 region) |
| Kallmann’s syndrome
(deletion in Xp22.3 region) |
| Miller-Dieker (deletion in 17p13.3 region) |
| SMS Smith-Magenis (deletion in
17p11.2 region) |
| WHS Wolf-Hirschorn (deletion in 4p16.3 region) |
| WHOLE
GENOME SCREENING |
| Genome profiling with 1 MB
microarray |
| Infertility MicroArray, 150 clones (microdeletion
syndromes, telomeric regions, ch. X, ch. Y) |
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