Post on 04-Oct-2021
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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: info@genlab.gr · 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
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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: info@genlab.gr · website: www.genlab.gr
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
NGS panel of 3 genes
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
OncoNext® Liquid Monitor 23 genes
OncoNext® Liquid Monitor 50 genes
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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: info@genlab.gr · website: www.genlab.gr
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
Molecular analysis of tissue biopsy - OncoNext® Tissue 23 genes
Molecular analysis of tissue biopsy - OncoNext® Tissue 50 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)
NGS panel of 48 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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
NGS panel of 9 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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
NGS panel of 3 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
Hemophilia
Inversion of intron 22 of F8 gene
Factor VIII (F8) - F8 gene sequencing
Factor IX (F9)
Hereditary amyloidosis TTR gene
Hereditary hemorrhagic telangiectasia
NGS panel of 3 genes
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
NGS panel of 2 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
Chorionic villi cells
Karyotype
Product of conception
Fetal blood
Molecular karyotype(array CGH)
High-resolution molecular karyotype (array CGH)
Lactic Acidosis and Pyruvate Metabolism
NGS panel of 69 genes
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
NGS panel of 58 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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
NGS panel of 62 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
Noonan, Leopard & Costello syndromes
NGS panel of 14 genes
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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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Genetic Diagnostic Laboratory
Kifisias Av. 302, Chalandri-Athens, 152 32, Greece Τel.: +30 210 68 03 130 · Fax: +30 210 68 94 778 · email: info@genlab.gr · website: www.genlab.gr
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