genetic diagnostic laboratory

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Genetic Diagnostic Laboratory

Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: [email protected] · website: www.genlab.gr

Aarskog-Scott syndrome FGD1 gene

Achondroplasia FGFR3 G320R mutation

Achromatopsia NGS panel of 5 genes

Acromesomelic dysplasia, Maroteaux type

NPR2 gene

Adenosine deaminase deficiency ADA gene

Adrenoleukodystrophy ABCD1 gene

Aicardi-Goutieres syndrome NGS panel of 5 genes

Alagille syndrome NGS panel of 2 genes

Albinism TYR gene

NGS panel of 5 genes

Alkaptonuria HGD gene

Alpha-1-antitrypsin SERPINA1 gene

Alport syndrome NGS panel of 3 genes

Alzheimer disease PSEN1, PSEN2 and APP genes

late onset AD2 – APOE E2,E3,E4

Amyloidosis TTR gene

Anderson-Fabry disease GLA gene

Anhidrotic ectodermal dysplasia IKBKG gene

Aniridia PAX6 gene

APECED syndrome AIRE gene

Apert syndrome Two most common mutations of FGFR2 gene

Apolipoprotein Ε Alleles ApoE: E2, E3, E4

Aromatase deficiency CYP19A1 gene

Arthrogryposis NGS panel of 6 genes

Ataxia-telangiectasia ATM gene

Autism AutismScreen® - NGS panel of 101 genes

mailto:[email protected]

http://www.genlab.gr/

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Autosomal dominant medullary cystic kidney disease

UMOD gene

Bardet Biedl syndrome NGS panel of 8 genes

Beckwith-Wiedemann syndrome

Deletions, duplications and methylation of 11p15 region


Blepharophimosis FOXL2 gene

Brugada syndrome (types 1,2,3,4) NGS panel of 8 genes

Cancer - Hereditary types

OncoNext® Risk Complete - NGS panel of 81 genes

Breast cancer - OncoNext® Risk Breast

Deletions and duplications of BRCA1 and BRCA2 genes

Ovarian & Uterine cancer - OncoNext® Risk Ovary & Uterus

Colon cancer - OncoNext® Risk Colon

Gastric cancer - OncoNext® Risk Gastric

Prostate cancer - OncoNext® Risk Prostate

Pancreatic cancer - OncoNext® Risk Pancreas

Kidney Cancer - OncoNext® Risk Renal

Brain Cancer - OncoNext® Risk Brain

Melanoma - OncoNext® Risk Melanoma

Feocromocitoma or paraganglioma - OncoNext® Risk PGL/PCC

Cancer - Liquid biopsy

OncoNext® Liquid Monitor Breast

OncoNext® Liquid Monitor Colon

OncoNext® Liquid Monitor Lung

OncoNext® Liquid Monitor 15 genes





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Cancer - Tissue biopsy

EGFR: exons 18-21 / 30 mutations

KRAS: exons 2,3,4 / 29 mutations

NRAS: exons 2,3,4 / 22 mutations

BRAF: codons 600/601 / 9 mutations

MSI (Microsatellite instability)

Onconext Tissue BRCA Plus

Molecular analysis of tissue biopsy - OncoNext® Tissue 15 genes



Cardiovascular disease

Cardiovascular disease risk prediction (12 mutations-polymorphisms)

CardioScreen® - Analysis of 43 genes related with hereditary cardiomyopathies

CardioScreen® - Analysis of 158 genes related with hereditary cardiomyopathies and sudden cardiac arrest

Cerebellar ataxia SETX gene

Cerebral Amyloid Angiopathy NGS panel of 2 genes (APP, CST3)

Charcot-Marie-Tooth disease

Χ-linked type (GJB1 gene)

type 1A (PMP22 gene)


Cleidocranial dysplasia RUNX2 gene

Congenital adrenal hyperplasia CYP21A2 gene

Congenital adrenal hypoplasia NR0B1 gene

Congenital disorder of glycosylation NGS panel of 13 genes

Cornelia de Lange syndrome NGS panel of 5 genes

Crigler-Najjar syndrome UGT1A1 gene

Crohn disease NGS panel of 10 genes

Cryptorchidism NGS panel of 3 genes



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Cystic fibrosis

F508del mutation

51 most common CFTR gene mutations, CFTR gene deletions & duplications

Complete CFTR gene analysis, NGS and CFTR gene deletions & duplications

Cystinuria NGS panel of 2 genes

Darier disease ATP2A2 genes

Diabetes NGS panel of 39 genes

Maturity onset diabetes of the young (NGS panel of 13 genes )

Diamond Blackfan anemia RPS19 gene


Dopa-responsive dystonia NGS panel of 6 genes

Dravet syndrome NGS panel of 8 genes

Duchenne-Becker muscular dystrophy

DMD gene deletions & duplications

DMD gene

Ectrodactyly NGS panel of 8 genes

Ehlers-Danlos syndrome NGS panel of 26 genes

Endometriome Molecular analysis of endometrial microbiome

Epidermolysis bullosa NGS panel of 13 genes

Epilepsy

Epileptic encephalopathy (NGS panel of 49 genes)

Myoclonic epilepsy MELF - Lafora disease (NGS panel of 2 genes)

Myoclonic epilepsy MELF (NGS panel of 23 genes)

Early infantile epileptic encephalopathy - Dravet syndrome (NGS panel of 8 genes)

Generalized epilepsy with febrile seizures (NGS panel of 35 genes)

Estrogen receptor Most common mutations of ESR1 gene

Familial hypercholesterolemia LDLR, PCSK9 genes & APOB R3500 mutation

Familial mediterranean fever Most common MEFV gene mutations

MEFV gene



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Fanconi anemia

Fanconi anemia specific karyotype

FANCA gene deletions

NGS panel of 19 genes associated with Fanconi anemia

Fragile Χ syndrome FRAXA gene (complete analysis)

FRAXΕ gene (premutation analysis)

Friedriech ataxia Triplet expansion of FRDA gene

Frontotemporal dementia NGS panel of 7 genes

Galactosemia GALT gene


Gangliosidosis GLB1 gene

Gaucher disease The most common mutations of GBA gene

GBA gene sequencing

GeneScreen® NGS analysis of 700 hereditary diseases

Gilbert syndrome Γονίδιο UGT1A1*28 (7TA)

Glanzmann thrombasthenia NGS panel of 2 genes

Goltz-Gorlin syndrome NGS panel of 3 genes

Growth hormone deficiency NGS panel of 4 genes

Hearing loss-Deafness

Non syndromic recessive hearing loss-GJB2 35delG mutation (connexin 26)

Non syndromic recessive hearing loss-GJB2 gene sequencing (connexin 26)

Non syndromic recessive hearing loss-GJB6 gene sequencing and deletions (connexin 30)

Hereditary and syndromic deafness (Alport, Bartter, Bor, Charge, Jervell/Lange-Nielsen, Mohr-Traenejaerg, Jensen, Ensen, Norrie, Pendred, Stickler, Treacher Collins, Usher, Waardenburg syndromes) NGS panel of 68 genes

Hemochromatosis

Hereditary hemochromatosis- 19 mutations in HFE, TFR2, FPN and HJV genes

Juvenile hemochromatosis – HJV gene sequencing

Hyperferritinaemia cataract syndrome

Hemolytic uremic syndrome NGS panel of 7 genes



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Hemophilia

Inversion of intron 22 of F8 gene

Factor VIII (F8) - F8 gene sequencing

Factor IX (F9)

Hereditary amyloidosis TTR gene

Hereditary hemorrhagic telangiectasia


Hereditary melanoma CDKN2A gene (p16)

Hereditary multiple exostoses NGS panel of 2 genes

Hereditary neuropathy with liability to pressure palsies

PMP22 gene

Hereditary spherocytosis NGS panel of 4 genes

Hirschsprung disease NGS panel of 6 genes

Holoprosencephaly NGS panel of 9 genes

Holt-Oram syndrome NGS panel of 2 genes

HPV Molecular genotyping of Human Papilloma Virus

Huntington disease ΗΤΤ gene

Hyperferritinaemia cataract syndrome

Iron-responsive element of FTL gene

Hypochondroplasia FGFR3 gene

Hypophosphatasia ALPL gene

Hypophosphatemic rickets NGS panel of 6 genes

Idiopathic hypereosinophilic syndrome


Iris coloboma, Aniridia PAX6 gene

Jeune syndrome NGS panel of 4 genes

Joubert syndrome NGS panel of 21 genes

Kallmann syndrome NGS panel of 10 genes

Karyotype

Conventional karyotype (Peripheral bood)

Couple conventional karyotype

Amniotic fluid cells



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Chorionic villi cells

Karyotype

Product of conception

Fetal blood

Molecular karyotype(array CGH)

High-resolution molecular karyotype (array CGH)

Lactic Acidosis and Pyruvate Metabolism


Leber congenital amaurosis NGS panel of 17 genes

Leigh syndrome NGS panel of 25 genes

Lesch-Nyhan syndrome HPRT1 gene

Leukodystrophy and peroxisome biogenesis disorders


Lissencephaly NGS panel of 4 genes

Long QT syndrome NGS panel of 12 genes

Lysosomal storage disorders NGS panel of 60 genes

Male infertility

Υ-chromosome microdeletions

Conventional karyotype, Cystic fibrosis (52 most common CFTR gene point mutations-CFTR gene exon deletions & duplications), Υ-chromosome microdeletions

Marfan syndrome NGS panel of 15 genes

Marinesco-Sjogren syndrome SIL1 gene

Meckel-Gruber syndrome NGS panel of 10 genes

Melanoma (predisposition panel) NGS panel of 6 genes

Microcephaly NGS panel of 37 genes

Microcephaly and pontocerebellar hypoplasia (NGS panel of 22 genes)

Microdeletion syndromes

DiGeorge, Sotos, Rubinstein-Taybi and NF1

Williams, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis and RETT

1q21.1-TAR, 2p16.1, 15q13.3, 16p11 and 17q12



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2p16, Langer-Giedion region 8q24, 9q22.3, WAGR syndrome 11p13, 15q24 and 17q21.31

1p36, 3q29, Cri du Chat, Wolf-Hirschhorn region and 22q13 Phelan-McDermid

1q21.1- TAR, 3q29, 7q36.1, 12p11.23, 15q13, 15q24.1, 16p11, 17q12, 18q21.2, and 20p12.2

Migraine NGS panel of 7 genes

Mitochondrial diseases NGS panel of 37 mitochondrial genes

NGS panel of 400 mitochondrial and nuclear genes

Mitochondrial encephalopathy & Leigh syndrome


Morris syndrome - Androgen insensitivity syndrome

AR gene

Moyamoya disease NGS panel of 2 genes

Mucopolysaccharidoses Types ΙΙΙΑ, ΙΙΙΒ, IVB, VI (NGS panel of 4 genes)

Multiple endocrine neoplasia type 1 MEN1 gene

Multiple endocrine neoplasia type 2 Most common mutations of RET gene

RET gene

Myeloproliferative neoplasms Ph-

JAK2 gene, V617F mutation

CALR gene, exon 9

MPL gene, W515L mutation

Myotonic dystrophy DMPK gene (DM1)

ZNF9 gene (DM2)

Myopathy (congenital) NGS panel of 17 genes

Nephronophthisis NGS panel of 10 genes

Nephrotic syndrome Finnish type (NPHS1 gene)

Netherton syndrome SPINK5 gene

Neurofibromatosis types 1 & 2 NF1 and NF2 genes

Niemann-Pick disease Type Α and Β (SMPD1 gene)

Τype C (NPC1 & NPC2 genes)

Non syndromic mental retardation NGS panel of 20 genes



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Noonan, Leopard & Costello syndromes


NutriNext 'Health & Wellness'

Weight control

Cardiovascular function & weight control

Bone health

Ηomocysteine metabolism

Inflammatory response

Antioxidant stress (Anti-aging)

Health & wellness (complete screening)

NutriNext 'Sensitivity & Intolerance'

Genetic predisposition to celiac disease

Sensitivty to caffeine

Lactose intolerance

Fructose intolerance

Sensitivity to alcohol

Sensitivity to nickel

Sensitivity to sulphite salts

Sensitivity and Intolerance (complete screening)

Osteogenesis imperfecta NGS panel of 11 genes

Osteopetrosis NGS panel of 9 genes

Parkinson disease

Autosomal dominant and recessive inheritance (NGS panel of 8 genes)

Parkinson disease with dystonia (NGS panel of 5 genes)

Atypical form (NGS panel of 10 genes)

Pendred syndrome NGS panel of 3 genes

Periodic fever syndromes NGS panel of 4 genes

Polycystic kidney disease Autosomal recessive & dominant inheritance (PKHD1, PKD1 and PKD2 gene)

Porphyria NGS panel of 7 genes



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Preimplantation genetic testing for aneuploidies (PGT-A)

Chromosomal testing by array CGH

Preimplantation genetic testing for monogenic disorders (PGT-M)

Common and rare monogenic disorders

Prenatal testing - invasive

Rapid detection of 13, 18, 21, X and Y chromosomal aneuploidies (QF-PCR)

Known parental mutations

Conventional karyotype, QF-PCR, Cystic fibrosis-F508del

Molecular karyotype, QF-PCR, Cystic fibrosis-F508del

Molecular karyotype, Cystic fibrosis-50 most common CFTR gene mutations, spinal muscular atrophy

PrenatalScreen®-NGS panel of 744 genes

Prenatal testing for chromosomal disorders non invasive (NIPT)

PrenatalSafe 3® (chromosomes 21, 18, 13)

PrenatalSafe 5® (chromosomes 21, 18, 13, X, Y)

PrenatalSafe Plus® (chromosomes 9, 16, 21, 18, 13, Χ, Υ & 6 microdeletion syndromes)

PrenatalSafe Karyo® (all chromosomes)

PrenatalSafe Karyo Plus® (all chromosomes & 9 microdeletion syndromes)

Prenatal testing for single gene disorders non invasive (NIPT)

GeneSafe Inherited® (Thalassaemia, Cystic fibrosis, Non syndr. deafness)

GeneSafe De Novo® (screening of 44 disorders)

GeneSafe Complete® (De Novo & Inherited)

PrenatalSafe Complete® (PrenatalSafe Karyo® & GeneSafe Complete®)

PrenatalSafe Complete Plus® (PrenatalSafe Karyo Plus® & GeneSafe Complete®)

Primary ciliary dyskinesia NGS panel of 40 genes

Recurrent pregnancy loss Conventional karyotype, thrombophilia risk assessment (Analysis of 12 mutations-polymorphisms)

Retinoblastoma RB1 gene

Retinopathy

Retinitis pigmentosa (NGS panel of 137 genes)

Macular degeneration (CFH gene)

Cone-rod dystrophy (NGS panel of 30 genes)



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Vitreoretinipathy - Wagner syndrome (NGS panel of 6 genes)

Retinoschisis (X-linked) RS1 gene

Rett syndrome MECP2 gene

Rubisten-Taybi syndrome CREBBP gene

Sandhoff syndrome HEXB gene

Short stature NGS panel of 12 genes

Shwachman–Diamond syndrome SBDS gene

Smith-Lemli-Opitz syndrome DHCR7 gene

Spastic paraplegia NGS panel of 32 genes

Spinal and bulbar muscular atrophy (Kennedy disease)

AR gene

Spinal muscular atrophy SMN1 & SMN2 (exons 7 & 8)

Spinocerebellar ataxia SCA 1,2,3,6,7

Spinocerebellar atrophy PRKCG gene

Stargardt disease NGS panel of 4 genes

STD

Molecular detection of 10 sexually transmitted diseases: Chlamydia trachomatis, Neisseria gonorrhoeae, Ureaplasma parvum / urealyticum, Mycoplasma genitalium / hominis, Herpes simplex 1, Herpes simplex 2, Treponema pallidum, Trichomonas vaginalis

Stickler syndrome NGS panel of 5 genes

Subtelomeric deletions and duplications

Tay-Sachs disease HEXA gene

Thalassemia

β-thalassemia and sickle cell anemia (complete beta globin gene analysis)

δβ-thalassemia

α-thalassemia (complete HBA1 & HbA2 globin gene analysis)

Thrombophilia

FV G1691A (Leiden), PTH G20210A and MTHFR C677T mutations

FV G1691A (Leiden) and FV H1299R (R2) mutations

MTHFR C677T and MTHFR A1298C mutations



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Thrombophilia

PTH G20210A mutation

Factor PAI-1 4G/5G

Risk assessment - Analysis of 12 mutations-polymorphisms

Thyroid hormone receptors THRA & THRB genes

Tooth agenesis NGS panel of 6 genes

TP53 gene Complete gene sequencing

Treacher Collins syndrome NGS panel of 3 genes

Tuberous sclerosis TSC1 & TSC2 genes

Uniparental disomy (UPD) - Family test

Chromosomes 7, 11, 14, 15, 22 and Prader-Willi, Angelmann, Beckwith- Wiedemann, Silver-Russel syndromes

Usher syndrome NGS panel of 12 genes

Vitamin D receptor VDR gene

Von Gierke disease - Glycogen storage disease type IA

G6PC gene

Von Hippel-Lindau syndrome VHL gene

Von Willebrand factor VWF gene

Waardenburg syndrome NGS panel of 6 genes

Warburg syndrome RAB3GAP1 gene

Weaver syndrome EZH2 gene

Clinical Exome Sequencing Solo

Whole Exome Sequencing Gold - Solo

Gold - Trio

Wilson disease ATP7B gene

Wiskott-Aldrich syndrome WAS gene

X-linked mental retardation 29 genes NGS panel



genetic diagnostic laboratory

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