GENETIC PATHOLOGY

Tests included in the group

Time reporting period:

14 days

Cystic fibrosis – 87% of mutations in the Greek population

Time reporting period:

4 weeks

Cystic fibrosis – >99% of CFTR gene mutations

Time reporting period:

14 days

β-thalassaemia and sickle-cell anaemia

Time reporting period:

14 days

α-thalassaemia (alpha thalassaemia)

REPORTING TIME :

21 days

Smith-Lemli-Opitz syndrome – DHCR7 gene

REPORTING TIME :

15 days

Genomic testing for Diamond-Blackfan anemia – 7 genes minimal NGS panel

REPORTING TIME :

15 days

Genomic testing for Polycystic Kidney Disease PKD1, PKD2 & PKHD1 genes NGS panel

REPORTING TIME :

2-3 weeks

Genomic testing for Hemophilia A & Β F8 & F9 genes NGS panel

REPORTING TIME :

15 days

Genomic testing Neurofibromatosis type 1 & 2 NF1 & NF2 genes NGS panel

REPORTING TIME :

15 days

VLCAD deficiency – gene ACADVL

REPORTING TIME :

15 days

Severe combined immunodeficiency due to ADA deficiency – gene ADA

REPORTING TIME :

15 days

Gene ALPL – Hypophosphatasia, childhood

REPORTING TIME :

15 days

Gene AIRE – Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

REPORTING TIME :

15 days

Gene ASL – Argininosuccinic aciduria

ΧΡΟΝΟΣ ΑΠΑΝΤΗΣΗΣ:

15 days

Gene ATM – Ataxia-telangiectasia

REPORTING TIME :

15 days

Gene ATP2A2 – Acrokeratosis verruciformis

REPORTING TIME :

15 days

Gene ATP7A -Menkes disease

REPORTING TIME :

15 days

Gene ATP7B – Wilson disease

REPORTING TIME :

15 days

Genes BCKDHA & BCKDHB – Maple syrup urine disease, type Ia & type Ib

REPORTING TIME :

15 days

Gene BMPR1A – Juvenile polyposis syndrome, infantile form

REPORTING TIME :

15 days

Gene BTD – Biotinidase deficiency

REPORTING TIME :

15 days

Gene BTK – Agammaglobulinemia and isolated hormone deficiency

REPORTING TIME :

15 days

Gene CCDC39 – Ciliary dyskinesia, primary, 14

REPORTING TIME :

15 days

Gene CCDC40 – Ciliary dyskinesia, primary, 15

:

15 ημέρες

Gene CHD7 – CHARGE syndrome

REPORTING TIME :

15 days

Gene COL11A1 – Fibrochondrogenesis 1

REPORTING TIME :

20 days

Gene COL4A5 – Alport syndrome

REPORTING TIME :

15 days

Gene COL7A1 – Epidermolysis bullosa dystrophica, AR

REPORTING TIME :

15 days

Gene COL9A1 – Stickler syndrome, type IV

REPORTING TIME :

15 days

Gene CTNS – Cystinosis, nephropathic

REPORTING TIME :

15 days

Gene CYP27A1 – Cerebrotendinous xanthomatosis

REPORTING TIME :

15 days

Gene DBT – Maple syrup urine disease, type II

REPORTING TIME :

15 days

Gene DKC1 – Dyskeratosis congenita, X-linked

REPORTING TIME :

15 days

Gene DLD – Dihydrolipoamide dehydrogenase deficiency

REPORTING TIME :

15 days

Gene DNAH11 – Ciliary dyskinesia, primary 7, with or without situs inversus

REPORTING TIME :

15 days

Gene DNAH5 – Ciliary dyskinesia, primary 3, with or without situs inversus

REPORTING TIME :

15 days

Gene DNAH9 – Ciliary dyskinesia, primary 3, with or without situs inversus

REPORTING TIME :

15 days

Gene DNAI1 – Ciliary dyskinesia, primary 1, with or without situs inversus

REPORTING TIME :

15 days

Gene DNAI2 – Ciliary dyskinesia, primary 9, with or without situs inversus

REPORTING TIME :

15 days

Gene DSP – Skin fragility-woolly hair syndrome

REPORTING TIME :

15 days

Gene ENG – Telangiectasia, hereditary hemorrhagic, type 1

REPORTING TIME :

15 days

Gene EXT1 – Chondrosarcoma

REPORTING TIME :

15 days

Gene FANCA – Fanconi anemia, complementation group A

REPORTING TIME :

15 days

Gene FANCC – Fanconi anemia, complementation group C

REPORTING TIME :

15 days

Gene FANCF – Fanconi anemia, complementation group F

REPORTING TIME :

15 days

Gene FANCG – Fanconi anemia, complementation group G

REPORTING TIME :

15 days

Gene FBN1 – Marfan syndrome

REPORTING TIME :

15 days

Gene FMO3 – Trimethylaminuria

REPORTING TIME :

15 days

Gene FRMD7 – Nystagmus, infantile periodic alternating, X-linked

REPORTING TIME :

15 days

Gene GAA – Glycogen storage disease II

REPORTING TIME :

15 days

Gene GALT – Galactosemia

REPORTING TIME :

15 days

Gene GBA – Gaucher disease, type I

REPORTING TIME :

15 days

Gene GBE1 – Glycogen storage disease IV

REPORTING TIME :

15 days

Genes GCSH, GLDC – Glycine encephalopathy

REPORTING TIME :

15 days

Gene GLA – Fabry disease

REPORTING TIME :

15 days

Gene GNE – Sialuria

REPORTING TIME :

15 days

Gene GNPTAB – Mucolipidosis II alpha/beta

REPORTING TIME :

15 days

Gene GPC3 – Simpson-Golabi-Behmel syndrome, type 1

REPORTING TIME :

15 days

Gene HEXA – Tay-Sachs disease

REPORTING TIME :

15 days

Gene HIBCH – 3-hydroxyisobutryl-CoA hydrolase deficiency

REPORTING TIME :

15 days

Gene HMBS – Porphyria, acute intermittent

REPORTING TIME :

15 days

Gene HR – Alopecia universalis

REPORTING TIME :

15 days

Gene IDS – Mucopolysaccharidosis II

REPORTING TIME :

15 days

Gene IDUA – Mucopolysaccharidosis Ih

REPORTING TIME :

15 days

Gene IL2RG – Combined immunodeficiency, X-linked, moderate

REPORTING TIME :

15 days

Gene F8 – Hemophilia A

REPORTING TIME :

15 days

Gene F9 – Hemophilia Β

REPORTING TIME :

15 days

Gene ITGB4 – Epidermolysis bullosa, junctional, non-Herlitz type

REPORTING TIME :

15 days

Gene JAG1 – Alagille syndrome

REPORTING TIME :

15 days

Gene KIAA0196 – Ritscher-Schinzel syndrome

REPORTING TIME :

20 days

Gene WT1 – Nephrotic syndrome, type 4

REPORTING TIME :

20 days

Gene PKD1 – Polycystic disease of adult kidney type I

REPORTING TIME :

20 days

Gene PKHD1 – Polycystic kidney disease and liver disease

REPORTING TIME :

20 days

Gene SLC25A13 – Citrullinemia type II with neonatal-onset

REPORTING TIME :

20 days

Gene PAH – Phenylketonuria

REPORTING TIME :

20 days

Gene OTC – Ornithine transcarbamylase deficiency

REPORTING TIME :

20 days

Gene MUT – Methylmalonic aciduria type mut(0)

REPORTING TIME :

20 days

Gene MMACHC – Acidemia metilmalonica & homocystinuria type cblC

REPORTING TIME :

20 days

Genes MMAA, MMAB – Acidemia metilmalonica, vitamin Β-12

REPORTING TIME :

20 days

Gene WRN – Werner syndrome

REPORTING TIME :

20 days

Gene WAS – Thrombocytopenia, X-linked

REPORTING TIME :

20 days

Gene TYR – Albinism oculocutaneous type IA

REPORTING TIME :

20 days

Gene TXNDC3 – Ciliary dyskinesia, primary, 6

REPORTING TIME :

20 days

Gene TTR – Amyloidosis related with hereditary transthyretin

REPORTING TIME :

20 days

Gene TCOF1 – Treacher Collins syndrome 1

REPORTING TIME :

20 days

Gene TBX5 – Holt-Oram syndrome

REPORTING TIME :

20 days

Gene TAZ – Barth syndrome

REPORTING TIME :

20 days

Gene SMAD4 – Polyposis, juvenile intestinal

REPORTING TIME :

20 days

Gene SMAD3 – Loeys-Dietz syndrome, type 3

REPORTING TIME :

20 days

Gene TGFBR2 – Loeys-Dietz syndrome, type 2

REPORTING TIME :

20 days

Gene TGFBR1 – Loeys-Dietz syndrome, type 1

REPORTING TIME :

20 days

Gene SIX5 – Branchiootorenal syndrome 2

REPORTING TIME :

20 days

Gene SH3BP2 – Cherubism

REPORTING TIME :

20 days

Gene SERPING1 – Angioedema, hereditary, types I and II

REPORTING TIME :

20 days

Gene SERPINA1 – Emphysema due to AAT deficiency

REPORTING TIME :

20 days

Gene SCN9A – Insensitivity to pain, congenital

REPORTING TIME :

20 days

Gene SALL4 – Duane-radial ray syndrome

REPORTING TIME :

20 days

Gene RSPH9 – Ciliary dyskinesia, primary, 12

REPORTING TIME :

20 days

Gene RSPH4A – Ciliary dyskinesia, primary, 11

REPORTING TIME :

20 days

Gene RPS6KA3 – Coffin-Lowry syndrome

REPORTING TIME :

20 days

Gene RPS26 – Diamond-Blackfan anemia 10

REPORTING TIME :

20 days

Gene RPS10 – Diamond-Blackfan anemia 9

REPORTING TIME :

20 days

Gene RPS7 – Diamond-Blackfan anemia 8

REPORTING TIME :

20 days

Gene RPL11 – Diamond-Blackfan anemia 7

REPORTING TIME :

20 days

Gene RPL35A – Diamond-Blackfan anemia 5

REPORTING TIME :

20 days

Gene RPS24 – Diamond-Blackfan anemia 3