| FGFR3M | Achondroplasia (FGFR3) - 2 mutations c.1138G>A/C | Single Gene |
| PNL001 | Achromatopsia (6 Genes) | OcularGenetics |
| ACMTPS | Achromatopsia CNGB3:c.1148delC; p.Thr383llefs*13 | OcularGenetics |
| PNL002 | Acute myeloid leukemia (15 Genes) | Oncogenetics |
| PNL003 | Adams-Oliver syndrome (8 Genes) | Oncogenetics |
| PNL004 | Aicardi-Giutieres Syndrome (7 Genes) | Neurogenetics |
| PNL005 | Albinism & Hermansky-Pudlak Syndrome | aa |
| PNL006 | Allan-Herndon-Dudley syndrome and its Differential Diagnosis (8 Gene) | aa |
| ATHAPB | Alpha - Thalassaemia -MLPA reflexed to Sanger Sequencing | Monogenic Disorder |
| ATHAAM | Alpha- Thalassaemia -MLPA reflexed to Sanger Sequencing -Prenatal (amniotic fluid/CVS) | Monogenic Disorder |
| PNL007 | Alport syndrome, Epstein syndrome and Fechtner syndrome (6 Genes ) | Nephrology |
| PNL008 | Alzheimer disease and other dementias (60 Genes) | aa |
| PNL009 | Amyotrophic Lateral Sclerosis (24 Genes) | aa |
| PNL010 | Anaemia ,congenital (88 Genes) | aa |
| LPWGSE | Aneuploidy Testing (by Low Pass Whole Genome Seq) | Chromosome Studies |
| PNL011 | Anophthalmia, microphthalmia isolated/syndromic (90 Genes) | aa |
| PNL012 | Aortic aneurysm, familial thoracic (18 Genes) | aa |
| APOEGT | Apolipoproteins E (APOE) ε (ε2/ε3/ε4) Genotyping | Single Gene |
| PNL013 | Arrhythmia, hereditary (33 Genes) | CardioVascular Genetics |
| PNL014 | Arrhythmogenic right ventricular cardiomyopathy (12 Genes) | CardioVascular Genetics |
| PNL015 | Arthrogryposis, distal and other limb contractures (15 Genes) | aa |
| PNL016 | Ashkenazi (18 Gene) | aa |
| PNL017 | Ataxia-oculomotor apraxia (5 Genes) | aa |
| PNL018 | Autism spectrum disorders (118 Genes) | aa |
| PNL019 | Autoinflammatory immunodeficiencies (18 Genes) | aa |
| PNL020 | Baller-Gerold syndrome and its differential diagnosis (5 genes) | aa |
| PNL021 | Bardet-Biedl syndrome (25 Genes) | Nephrology |
| PNL022 | Bartter syndrome (7 Genes) | Nephrology |
| PNL023 | Basal cell nevus syndrome [Gorlin or Gorlin-Goltz syndrome] (3 Genes) | aa |
| BWSSRS | Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) | Cytogenetics |
| BTHAPB | Beta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood) | Single Gene |
| BTHAAM | Beta -T halassaemia /Hbpathoies- NGS reflexed to MLPA (Prenatal) | Single Gene |
| PNL024 | Bethlem myopathy (4 Genes) | aa |
| BPSTRE | Bi-Parental Study / Molecular PN Check | Kinship |
| HLAA29 | Bird Shot Retinopathy (HLA-A29) | Immunogenetics |
| BLMSYN | Bloom syndrome | Oncogenetics |
| PNL025 | Bohring-Opitz syndrome and its differntial diagnosis (10 Genes) | aa |
| PNL026 | Bone marrow failure (63 Genes) | aa |
| BONKAR | Bone Marrow Karyotyping | Oncogenetics |
| BRAFV6 | BRAF V600 Mutation | Haemato-Oncology |
| PNL027 | Branchiootic and branchiootorenal syndromes (3 Genes) | aa |
| BRCAML | BRCA1 AND BRCA2 Rearrangement | Oncogenetics |
| PNL029 | Breast-ovarian cancer, essential (2 Genes) | Oncogenetics |
| PNL030 | Brugada syndrome (9 Genes) | aa |
| PNL031 | Burn-McKeown syndrome and Treacher-Collins syndrome (4 Genes) | aa |
| CALRES | CALR Exon 9 (Sequencing) | Haemato-Oncology |
| PNL032 | Camurati-Engelman disease and its differential diagnosis (6 Genes) | aa |
| PNL033 | Canavan Disease and its differential diagnosis (9 Genes) | aa |
| PNL034 | Cantú syndrome, Berardinelli-Seip syndrome and their differential diagnosis [incl. mucopolysacchcaridosis I, II, IVA, mucolipidosis III, and alpha-mannosidosis and Beckwith-Wiedemann syndrome] (11 Genes) | aa |
| PNL035 | Cardiomyopathy, dilated (44 Genes) | CardioVascular Genetics |
| PNL036 | Cardiomyopathy, hypertrophic (31 Genes) | CardioVascular Genetics |
| PNL037 | Cartilage-hair hypoplasia and anauxetic dysplasia spectrum disorders (11 Genes) | Genodermatology |
| PNL038 | Cataract, isolated, classic (39 Genes) | aa |
| PNL039 | Cataract, isolated, extended (35 Genes) | aa |
| PNL040 | Catecholaminergic polymorphic ventricular tachycardia (3 Genes) | aa |
| CD33SN | CD33SNP Genotyping | Oncogenetics |
| CELDIS | Celiac Disease | Immunogenetics |
| PNL041 | Central core disease and its differential diagnosis (6 Genes) | aa |
| PNL042 | Central hypoventilation syndrome (12 Genes) | aa |
| PNL043 | Centronuclear myopathy (9 Genes) | aa |
| PNL044 | Cerebellar ataxia (18 Genes) | aa |
| PNL045 | Cerebral Palsy Spectrum Disorders (419 Genes) | aa |
| PNL046 | Cerebral Small Vessel Disease, Familial | aa |
| PNL047 | | aa |
| PNL048 | Cerebrotendinous xanthomatosis and its differential diagnosis (9 Genes) | aa |
| COLNLB | cfDNA- Colorectal | Oncogenetics |
| LUNGLB | CfTNA Lung | Oncogenetics |
| ECGT02 | CGT - Expanded (450 genes) Duo | Multi Gene |
| NIPT24 | CGx NIPT 24C | NIPT |
| NIPT26 | CGx NIPT 24C +60 micro Del/Dup | NIPT |
| NIPT26 | CGx NIPT 24C +60 micro Del/Dup | NIPT |
| NIPT93 | CGx NIPT 24C +93 micro Del/Dup | NIPT |
| NIPT93 | CGx NIPT 24C +93 micro Del/Dup | NIPT |
| NIPT28 | CGx NIPT 24C+8 mDel* | NIPT |
| CMT1ML | Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP) | Neurogenetics |
| CMT1MN | Charcot-Marie- Tooth Disease Type1A (MLPA) | Neurogenetics |
| PNL049 | Charcot-Marie-Tooth neuropathy (83 Genes) | Neurogenetics |
| PNL050 | Cherubism and its differential diagnosis (6 Genes) | aa |
| CHSTR1 | Chimerism, Donor | Kinship |
| CHSTR3 | Chimerism, Posttransplant | Kinship |
| CHSTR2 | Chimerism, Recipient - Pretransplant | Kinship |
| PNL051 | Cholestasis and bile acid synthesis defect (14 Genes) | aa |
| PNL052 | Chondrodysplasia punctata and its differential diagnosis, excl. Zellweger syndrome (17 Genes) | aa |
| MICARR | Chromosomal Microarray (CMA) - 750K SNP array - Peripheral Blood | Cytogenetics |
| CMAPRE | Chromosomal Microarray (CMA) - 750K SNP array - Prenatal | Cytogenetics |
| CISNGS | Chromosome instability syndromes | Neurogenetics |
| PNL053 | Chronic granulomatous disease (6 Genes) | aa |
| PNL054 | Cicardian rhythm variations (22 Genes) | CardioVascular Genetics |
| PNL055 | Ciliopathies: Primary Ciliary Dyskinesia (39 Genes); Joubert Synd (46 Genes); Bardet-Biedl Syndrome Panel (32 genes)/SeniorLoken Synd (13 genes) | aa |
| PNL056 | Coffin-Lowry syndrome and its differential diagnosis (6 Genes) | aa |
| PNL057 | Coffin-Siris syndrome (10 Genes) | aa |
| PNL059 | Common variable immunodeficiency (13 Genes) | aa |
| PNL060 | Cone-rod and cone dystrophy (34 Genes) | aa |
| CAHMLP | Congenital Adrenal Hyperplasia (CAH)- MLPA | Nephrology |
| PNL061 | Congenital adrenal hyperplasia (Panel) | Endocrinology |
| PNL062 | Congenital bile acid synthesis defect (6 Genes) | aa |
| PNL063 | Congenital disorders of glycosylation (50 Genes) | aa |
| PNL064 | Congenital disorders of glycosylation, experimental (78 Genes) | aa |
| PNL065 | Congenital fibrosis of the extraocular muscles and its differential diagnosis (13 Genes) | aa |
| PNL066 | Congenital ichthyosis (16 Genes) | aa |
| PNL067 | Congenital insensitivity to pain (10 Genes) | aa |
| PNL068 | Congenital myasthenic syndrome | aa |
| PNL069 | Congenital stationary night blindness | aa |
| PNL070 | Connective Tissue Disorders (92 Genes) | aa |
| PNL071 | Cornelia de Lange syndrome (28 Genes) | aa |
| PNL072 | Craniosynostosis, including FGFR-related craniosynostosis and their differential diagnosis and new craniosynostosis genes [incl. Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jack | aa |
| CRODIS | Crohn's Disease | Immunogenetics |
| CP 1-10 | Custom Gene Sequencing Panel (1-10) | Multi Gene |
| SangCGT | Customised Sequencing by Sanger Sequencing | Single Gene |
| PNL073 | Cutis laxa (8 Genes) | aa |
| PGX002 | CYP2C19 Genotyping (Clopidogrel Metabolism) | Pharmacogenomics |
| PGX003 | CYP2C9 Genotyping | Pharmacogenomics |
| PNL074 | Cystic fibrosis and its differential diagnosis (44 Genes) | aa |
| CFTR9T | Cystic Fibrosis with CFTR intron 9 Poly T | Single Gene |
| PNL075 | Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (110 Genes) | aa |
| PNL076 | Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitocondrial, classic | aa |
| PNL077 | Dementia with Lewy bodies (8 Genes) | aa |
| PNL078 | Dense deposit disease, membranoproliferative glomerulonephritis II, atypical haemolytic uraemic syndrome & thrombotic thrombocytopenic purpura (14 Genes) | aa |
| DRPLAR | Dentatorubro-pallidoluysian Atrophy (DRPLA) (CAG Repeat Expansion in ATN1 Gene) | Neurogenetics |
| PNL079 | Diabetes neonatal (41 Genes) | aa |
| PNL080 | Diamond-Blackfan anaemia (23 Genes) | Haematogenetics |
| PNL081 | Diarrohea, congenital, chronic (13 Genes) | aa |
| DSDNGS | Differences in Sex Development (DSD) | Reproductive Genetics |
| PNL082 | Distal myopathies (20 Genes) | aa |
| DMDSEQ | DMD - Gene Sequencing | Single Gene |
| PGX004 | DPYD Genotyping | Pharmacogenomics |
| PNL083 | Dravet syndrome (4 Gene) | aa |
| DMDBMD | Duchenne/Becker Muscular Dystrophy Deletion/Duplication Test | Single Gene |
| PNL084 | Dyserythropoietic Anaemia, Congenital (8 Genes) | aa |
| PNL085 | Dyskeratosis congenita and its differential diagnosis (14 Genes) | aa |
| PNL086 | Dyslipidaemia (hyperlipidaemia) (23 Genes) | aa |
| PNL087 | Dyslipidemia and obesity, syndromic and nonsyndromic (58 Genes) | aa |
| PNL297 | Dystonia, chorea or related movement disorder (Early and adult onset)- Comprehensive | Neurogenetics |
| PNL088 | Dystonias (early/child/adult onset), chorea or related movement disorder (95 Genes) | Neurogenetics |
| PNL089 | Early infantile epileptic encephalopathy (79 Genes) | aa |
| PNL090 | Ectodermal dysplasia (30 Genes) | Genodermatology |
| PNL091 | Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes) | Cardiogenetics |
| PNL092 | Epidermolysis bullosa (29 Genes) | Genodermatology |
| PNL093 | Epilepsy familial adult myoclonic (7 Genes) | aa |
| PNL094 | Epilepsy familial focal with variable foci (4 Genes) | aa |
| PNL095 | Epilepsy progressive myoclonic (11 Genes) | aa |
| PNL096 | Epilepsy, all genes (152 Genes) | aa |
| PNL097 | Epilepsy, familial temporal lobe (7 Genes) | aa |
| PNL098 | Epilepsy, hereditary (26 Genes) | Oncogenetics |
| PNL099 | Epilepsy, nocturnal frontal lobe (5 Genes) | Oncogenetics |
| PNL100 | Epileptic encephalopathy (55 Genes) | aa |
| PNL101 | Episodic ataxias and their differential diagnosis (19 Genes) | aa |
| PNL103 | Erythrocyte (red cell) Enzymopathies (14 Genes) | aa |
| PNL102 | Erythrocytosis NGS Gene panel (10 Genes) | aa |
| PNL104 | Exostoses, multiple [ostoechondromatosis] (2 Genes) | aa |
| ECGT01 | Expanded Carrier Screening - 450 genes | Multi Gene |
| PNL296 | Fabry disease | |
| FIIPTNT | Factor II (Prothrombin) (G20210A) | Single Gene |
| FVLEID | Factor V Leiden (R506Q, H1327R) | Single Gene |
| FAMDYS | Familial dysautonomia | aa |
| PNL105 | Familial dyskinesia/chorea panel (5 Genes) | aa |
| PNL106 | Familial episodic pain syndrome (3 Genes) | aa |
| PNL107 | Familial hemiplegic migraine, CADASIL, retinal vasculopathy with cerebral leukodystrophy, hereditary hemorrhagic telangiectasia, familial cerebral cavernous malformations & alternating hemiplegia of childhood (10 Genes) | Oncogenetics |
| PNL108 | Familial hypercholesterolaemia & other lipoprotein metabolism defects | aa |
| PNL109 | Familial hyperinsulinism (19 Genes) | aa |
| PNL110 | Familial pulmonary fibrosis (28 Genes) | Rare Diseases |
| PNL111 | Fanconi anaemia | Haematogenetics |
| PNL112 | Febrile seizures and GEFS+ (8 Genes) | aa |
| PNL113 | Female infertility (47 Genes) | aa |
| PNL114 | Fetal akinesia deformation sequence and multiple pterygium syndrome [incl. Escobar syndrome] (9 Genes) | aa |
| PNL116 | Fibrous dysplasia/McCune-Albright syndrome and its differential diagnosis (5 Genes) | aa |
| PNL117 | Fleck retina, choroideremia and age-related macular degeneration (11 Genes) | aa |
| PNL118 | Floating-Harbor Syndrome and its differential diagnosis (6 Genes) | aa |
| FLTITD | FLT3 - Internal Tandem Duplication & D835 mutation | Oncogenetics |
| PNL119 | Focal dermal hypoplasia and its differential diagnosis (5 Genes) | aa |
| PNL120 | Focal segmental glomerulosclerosis/nephrotic syndrome (25 Genes) | aa |
| FXSTAS | Fragile X (FMR1) | Single Gene |
| FXAFF2 | FRAGILE XE SYNDROME | aa |
| FRDARP | Friedreich Ataxia (FRDA) - FXN gene GAA Repeat | Neurogenetics |
| PNL121 | Frontotemporal dementia (9 Genes) | aa |
| G6PDSG | G6PD Sequence Analysis (Sanger/NGS) | Single Gene |
| PNL122 | Galactosemia (4 Genes) | aa |
| PNL115 | Genetic differential diagnosis of Fibromyalgia. | aa |
| PNL123 | Genetic stroke syndromes (27 Genes) | aa |
| PNL124 | Giant axonal neuropathy and its differential diagnosis (9 Genes) | aa |
| GLBTSD | Gilbert Syndrome (UGT1A) | Single Gene |
| PNL298 | Gitelman syndrome | Nephrology |
| PNL125 | Glycogen storage disease (21 Genes) | aa |
| PNL126 | Glycogen/lipid storage myopathies, with/without rhabdomyolysis, excercise intolerance and other metabolic myopathies (73 Genes) | aa |
| PNL127 | Griscelli syndrome and infantile sialic acid storage disorder | aa |
| HFE3MU | Haemochromatosis (HFE) - 3 Mutations (C282Y, H63D, S65C) | Single Gene |
| PNL128 | Haemolytic anaemia, Hereditary - Panel (72 Genes) | aa |
| HDFNRB | Haemolytic Disease of Foetus and Newborn (HDFN) - RhD, C, c, E, K, Fya | Reproductive Genetics |
| HAEMOA | Haemophilia A (Intron 22 & I Inversion reflex to Sequencing) | Single Gene |
| HAEMOB | Haemophilia B (Exons Sequencing) | Single Gene |
| PNL129 | Hearing Loss Panel (142 genes) | aa |
| PNL130 | Hemophilia and other bleeding disorders (32 Genes) | Haematogenetics |
| PNL282 | Herediatry Cancer Multigene Panel Test (174 Genes) | Oncogenetics |
| HERCA1 | Herediatry Cancer Multigene Panel Test (81 Genes) | Multi Gene |
| PNL028 | Hereditary Breast-Ovarian/Gynaecologic Cancer Panel (31 Genes) | Oncogenetics |
| PNL131 | Hereditary cancer (all genes) (91 Genes) | aa |
| PNL058 | Hereditary Colon & gastric cancer, with/without polyposis (35 Genes) | Oncogenetics |
| PNL132 | Hereditary hypoparathyroidism, isolated (3 Genes) | aa |
| PNL285 | Hereditary Leukaemia and Breast Cancer Panel (37 Genes) | Oncogenetics |
| PNL286 | Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel (73 Genes) | Oncogenetics |
| PNL287 | Hereditary Melanoma Panel (16 Genes) | Oncogenetics |
| PNL293 | Hereditary Multiple Exostoses Panel | Oncogenetics |
| PNL283 | Hereditary Myeloid/Myelodysplastic Syndrome/ Inherited predisposition to acute myeloid leukaemia (112 Genes) | Oncogenetics |
| PNL284 | Hereditary Myeloid/Myelodysplastic Syndrome/ Inherited predisposition to acute myeloid leukaemia (112 Genes) | Oncogenetics |
| HERPAN | Hereditary Pancreatits-single mutation (SPINK1 - N34S) | Oncogenetics |
| PNL209 | Hereditary Pheochromocytoma and Paraganglioma Panel (10 Genes) | Oncogenetics |
| PNL288 | Hereditary Prostate Cancer Panel (13 Genes) | Oncogenetics |
| PNL133 | Hereditary red cell membrane disorders [including: hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocystosis] (14 Genes) | Haematogenetics |
| PNL134 | Hereditary sensory and autonomic neuropathy (16 Genes) | aa |
| PNL265 | Hereditary Thyroid cancer (13 genes) | Multigene |
| PNL135 | Heterotaxy, visceral, Tetralogy of Fallot, VATER & VACTERLX associations (11 Genes) | Pediatric Cardiology |
| PNL136 | Hirschsprung disease, nonsyndromic, susceptibility to (8 Genes) | aa |
| PNL137 | Histone-modification disorders and their differential diagnosis [incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes] (17 Genes) | aa |
| HLAB15 | HLA - B*1502 | Immunogenetics |
| HLAB27 | HLA - B*27 | Immunogenetics |
| HLADQ2 | HLA - DQ2.5 (HLA-DQA1*05 / HLA-DQB1*02 alleles) | Immunogenetics |
| HLACOM | HLA Genotype Sequenced | Neurogenetics |
| HLA015 | HLA-B*58:01 (Allopurinol Hypersensitivity Testing) | Immunogenetics |
| HLA016 | HLA-C*06 (Psoriasis vulgaris / Ustekinumab Response) | Immunogenetics |
| PNL138 | Holoprosencephaly (11 Genes) | aa |
| PNL294 | Holoprosencephaly (HPE)
Holoprosencephaly (HPE) BXW11, PTCH1, SHH, SIX3, TGIF1, TRAPPC10 and ZIC2 | Reproductive Genetics |
| PNL138 | Holoprosencephaly (HPE) BXW11, PTCH1, SHH, SIX3, TGIF1, TRAPPC10 and ZIC2 | Multi Gene |
| NXHTTD | HUNTINGTON (HTT) Disease (CAG Repeat Expansion Testing in HD gene) | Neurogenetics |
| HYMLGT | Hydatidiform Mole Genotyping | Kinship |
| PNL139 | Hyper-IgE recurrent infection syndrome and its differential diagnosis, incl. immunodeficiency 35, Wiskott-Aldrich syndrome, Netherton syndrome, and Omenn syndrome (10 Genes) | aa |
| PNL140 | Hyper-IgE syndrome and eosinophilia (39 Genes) | aa |
| PNL141 | Hyperaldosteronism, familial, and its differential diagnosis (11 Genes) | aa |
| PNL142 | Hypercalcaemia (5 Genes) | aa |
| PNL143 | Hyperekplexia (5 Genes) | aa |
| PNL144 | Hypophosphatemic rickets (6 Genes) | aa |
| PNL145 | Immunodeficiency, primary (220 Genes) | Immunogenetics |
| PNL146 | Incidentals (73 Genes) | aa |
| PNL289 | Inherited Bone marrow Failure (107 Genes) | Oncogenetics |
| PNL147 | Isolated growth hormone deficiency (4 Genes) | aa |
| JAK2ES | JAK2 V617F & Exon 12 Mutation Testing | Haemato-oncology |
| PNL148 | Joubert & Meckel-Gruber syndrome panel, classic (27 Genes) | aa |
| PNL149 | Joubert and Meckel-Gruber syndrome, extended (32 Genes) | aa |
| PNL150 | Kabuki syndrome (2 Genes) | aa |
| PNL151 | Kallmann syndrome and other forms of hypogonadotropic hypogonadism with or without anosmia (28 Genes) | aa |
| CKTAMN | Karyotyping - Amniotic Fluid | Chromosome Studies |
| CKTCVS | Karyotyping - CVS | Chromosome Studies |
| CKTMSC | Karyotyping - MSC | Chromosome Studies |
| COKARY | Karyotyping - Peripheral Blood | Chromosome Studies |
| CKTPOC | Karyotyping - POC | Chromosome Studies |
| KINDUO | Kinship Duo | Kinship |
| KINSGL | Kinship Single (add-on) | Kinship |
| KINTRI | Kinship Trio | Kinship |
| KIRHLA | KIR and HLA-C Genotyping | Immunogenetics |
| KIT816 | KIT D816V (Exon 17 Sequencing) | Haemato-Oncology |
| PNL152 | Leber congenital amaurosis (22 Genes) | aa |
| LHON3M | Leber Hereditary Optic Neuropathy (LHON)- 3 mutations (G3460A, G11778A, T14484C) | Oncogenetics |
| PNL153 | Left ventricular noncompaction (18 Genes) | aa |
| PNL154 | Leigh syndrome/NARP & their differential diagnosis (79 Genes | aa |
| LEGHDS | Leigh's Disease -3 mutation (T12706C, A13084T, G13513A) | Metabolic Genetics |
| PNL155 | Leukodystrophy (295 Genes) | aa |
| PNL295 | Limb-girdle Muscular Dystrophies (LGMD) and Congenital Muscular Dystrophy Panel | Neurogenetics |
| PNL156 | Limb-girdle muscular dystrophy (25 Genes) | aa |
| PNL157 | Lissencephaly (23 Genes) | aa |
| PNL158 | Long QT syndrome (17 Genes) | CardioVascular Genetics |
| PNL159 | Lymphedema, hereditary and other conditions with lymphedema | Multigene |
| PNL290 | Lynch Syndrome Panel (8 Genes) | Oncogenetics |
| PNL160 | Lysosomal acid lipase deficiency | aa |
| PNL161 | Lysosomal disorders (102 Genes) | Multigene |
| PNL162 | Malattia Leventinese [or dominant radial Drusen or Doyne honeycomb degeneration of retina] and its differential diagnosis (6 Genes) | Multigene |
| PNL163 | Male infertility (77 Genes) | Multigene |
| PNL164 | Malignant hyperthermia (3 Genes) | Multigene |
| PNL165 | Maple syrup urine disease (4 Genes) | Multigene |
| MAFSYN | Marfan Syndrome | CardioVascular Genetics |
| PNL166 | Marfan syndrome and related disorders (13 Genes) | CardioVascular Genetics |
| MCCPRE | Maternal Cell Contamination Study | Chromosome Studies |
| PNL175 | Maturity Onset Diabetes of the Young (MODY) (14 Genes) | Multigene |
| MCM6GT | MCM6 genotyping | Mendelian Genetics |
| 17QMDS | MD - 17q21.31 microduplication syndrome - MLPA | Chromosome Studies |
| 1P36MD | MD - 1p36 deletion Syndrome (MLPA) | Chromosome Studies |
| 22QMDS | MD - 22q11.2 microduplication syndrome - MLPA | Chromosome Studies |
| 2P16MD | MD - 2p16.1-p15 microdeletion syndrome (MLPA) | Chromosome Studies |
| 2Q23MD | MD - 2q23.1 microdeletion/microduplication syndrome- MLPA | Chromosome Studies |
| 3Q29MD | MD - 3q29 microdeletion/microduplication syndrome - MLPA | Chromosome Studies |
| 9Q22MD | MD - 9q22.3 microdeletion syndrome - MLPA | Chromosome Studies |
| AGLSYN | MD - Angelman syndrome - MLPA | Chromosome Studies |
| CDCMDS | MD - Cri-du-Chat syndrome - MLPA | Chromosome Studies |
| DGESY1 | MD - DiGeorge syndrome - MLPA | Chromosome Studies |
| DGESY2 | MD - DiGeorge syndrome-2 - MLPA | Chromosome Studies |
| 22QDMD | MD - Distal 22q11.2 deletion syndrome - MLPA | Chromosome Studies |
| GLSYMD | MD - Glass syndrome (MLPA) | Chromosome Studies |
| KDVMDS | MD - Koolen-de Vries syndrome - MLPA | Chromosome Studies |
| LGDMDS | MD - Langer-Giedion syndrome - MLPA | Chromosome Studies |
| LISEMD | MD - Lissencephaly-1 - MLPA | Chromosome Studies |
| MECP2S | MD - MECP2 duplication syndrome - MLPA | Chromosome Studies |
| MLDMDS | MD - Miller-Dieker syndrome - MLPA | Chromosome Studies |
| NF1MDS | MD - NF1 microdeletion syndrome - MLPA | Chromosome Studies |
| PMDMDS | MD - Phelan-McDermid syndrome - MLPA | Chromosome Studies |
| POLMDS | MD - Potocki-Lupski syndrome - MLPA | Chromosome Studies |
| PDWMDS | MD - Prader-Willi syndrome - MLPA | Chromosome Studies |
| RETMDS | MD - Rett syndrome - MLPA | Chromosome Studies |
| RUTMDS | MD - Rubinstein-Taybi syndrome - MLPA | Chromosome Studies |
| SMGMDS | MD - Smith-Magenis syndrome - MLPA | Chromosome Studies |
| 15QMDS | MD - Witteveen-Kolk / 15q24 microdeletion syndrome - MLPA | Chromosome Studies |
| WFHRMD, MCCADD | MD - Wolf-Hirschhorn syndrome - MLPA | Chromosome Studies |
| RTNMDS | MD- Retinoblastoma (RB1 Gene) | Oncogenetics |
| SRYMDS | MD-SRY (Yp11.3) | Reproductive |
| STSMDS | MD-Steriod Sulfatase (Xp22.3) | aa |
| WILMDS | MD-Williams(7q1)1.23 | Cytogenetics |
| PNL167 | Megaloblastic anaemia with/without homocystinuria - disorders of intracellular cobalamin metabolism (11 Genes) | Multigene |
| PNL168 | Meier Gorlin syndrome and microcephalic primordial dwarfism (12 Genes) | Multigene |
| PNL169 | Mental retardation, X-linked (92 Genes) | Multigene |
| PNL291 | Mesothelioma (28 Genes) | Oncogenetics |
| PNL170 | Metaphyseal dysplasia (8 Genes) | Multigene |
| PNL171 | Methylmalonic acidemia (15 Genes) | Multigene |
| PNL172 | Mitochondrial complex IV deficiency - cytochrome c oxidase deficiency (24 Genes) | Multigene |
| PNL173 | Mitochondrial disorders, nuclear DNA genes (236 Genes) | Multigene |
| PNL174 | Mitochondrial DNA depletion syndromes (14 Genes) | Multigene |
| PNL177 | Moebius syndrome (2 Genes) | aa |
| PNL176 | Moebius syndrome (3 Genes) | Multigene |
| DBTMON | Monogenic Diabetes | Multigene |
| PNL360 | Monogenic diabetes, Comprehensive (90 Genes) | Multi Gene |
| MPLESS | MPL W515 mutation and Exon 10 Sequencing | Haemato-Oncology |
| MTHFR2 | MTHFR (C665C>T & 1286A>C) | Single Gene |
| PNL178 | Mucolipidosis (3 Genes) | Multigene |
| PNL179 | Mucopolysaccharidosis (12 Genes) | Multigene |
| MULSCL | Mulitple Sclerosis | Immunogenetics |
| PNL180 | Multiple epiphyseal dysplasia (7 Genes) | Multigene |
| MPNCOM | Myeloproliferative Neoplasia - Combo | Oncogenetics |
| PNL181 | Myocardial Infarction, familial (33 Genes) | CardioVascular Genetics |
| PNL182 | Myofibrillar myopathy, Nonaka myopathy, dysferlinopathy, Laing distal myopathy, and congenital myopathy with fiber-type disproportion (15 Genes) | Multigene |
| PNL183 | Myopathies and neuromuscular disorders, comprehensive (219 Genes) | Multigene |
| PNL184 | Myopia (9 Genes) | Multigene |
| MYDDM1 | Myotonic Dystrophy Type 1 (DM1) CTG Repeats DMPK | Neurogenetics |
| MYDDM2 | Myotonic dystrophy type 2 (DM2) | Neurogenetics |
| DQB106 | Narcolepsy (HLA-DQB1*0602) | Immunogenetics |
| PNL185 | Nemaline myopathy and other congenital myopathies (20 Genes) | Multigene |
| PNL186 | Nephronophthisis (11 Genes) | Multigene |
| PNL187 | Neurodegeneration with brain iron accumulation [NBIA] (12 Genes) | Multigene |
| PNL188 | Neurofibromatosis (9 genes) | Multigene |
| PNL189 | Neuronal ceroid lipofuscinosis (13 Genes) | Multigene |
| PNL190 | Neuronal migration disorders (72 Genes) | Multigene |
| NGS450 | NGS Multigene Testing Panel > 450 genes | Multi Gene |
| PNL191 | Niemann-Pick disease (3 Genes) | Multigene |
| PNL192 | Non-immune Hydrops Panel (87 Genes) | Multigene |
| PNL193 | Noonan Syndrome Panel | Multigene |
| PNL194 | Noonan, LEOPARD, Costello and CFC syndromes, expanded (22 Genes) | Multigene |
| TNR010 | NOTCH2NLC GGC TRINUCLEOTIDE Repeat Testing - Neuronal Intranuclear Inclusion Disease (NIID) | Neurogenetics |
| NPM1ES | NPM1 Exon 12 (Insertion/Deletion Testing) | Haemato-Oncology |
| NUDT15 | NUDT15 | Pharmacogenetics |
| PNL195 | Obesity (Sever Early-Onset) (16 Genes) | Multigene |
| PNL196 | Obesity, syndromic and nonsyndromic (30 Genes) | Multigene |
| PABPN1 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY (GCG Repeat Expansion on PABPN1 Gene) | Neurogenetics |
| PNL197 | Optic atrophy (16 Genes) | Multigene |
| OSTIMP | Osteogenesis Imperfecta | Single Gene |
| PNL198 | Osteogenesis imperfecta (26 Genes) | Multigene |
| PNL199 | Osteopetrosis (9 Genes) | Multigene |
| PNL200 | Ovarian dysgenesis (7 Genes) | Multigene |
| PNL201 | Overgrowth syndromes (25 Genes) | Multigene |
| PNL202 | Pancreatic cancer (14 Genes) | Multigene |
| PNL203 | Pancreatitis (6 Genes) | Multigene |
| PNL204 | Panhypopituitarism (9 Genes) | Multigene |
| PRCHEM | Parental Check - Embryo | Kinship |
| PNL205 | Parkinsons disease (35 Genes) | Multigene |
| PNL206 | Periodic fever syndrome (8 Genes) | Multigene |
| PNL207 | Periodic paralysis, hyperkalemic, hypokalemic, thyrotoxic, and Andersen-Tawil syndrome (5 Genes) | Multigene |
| PNL208 | Perrault syndrome (6 Genes) | Multigene |
| SETUPM | PGT-M (Preclinical Set-Up) | Preimplantation Genetics |
| SETUSR | PGT-SR (Preclinical Set-Up) | Preimplantation Genetics |
| PGX001 | Pharmacogenomics (34 genes) | Pharmacogenomics |
| PHLBTY | Phlebotomy Charges | Service |
| PLAI1T | Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping | Single Gene |
| PNL210 | Poikiloderma spectrum (4 Genes) | Genodermatology |
| PNL211 | Polycystic kidney disease and its differential diagnosis, classic (10 Genes) | Multigene |
| PNL212 | Polycystic kidney disease and its differential diagnosis, extended (16 Genes) | Multigene |
| PNL213 | Polydactyly, excl. Bardet-Biedl and Joubert-Meckel (134 Genes) | Nephrology |
| PNL214 | Pontocerebellar hypoplasia, classic (9 Genes) | Multigene |
| PNL215 | Pontocerebellar hypoplasia, extended (17 Genes) | Multigene |
| PNL216 | Porencephaly and schizencephaly (5 Genes) | Multigene |
| PNL217 | Porphyria spectrum disorders (11 genes) | Multigene |
| PORNGS | Porphyrias | Multigene |
| PGTA01 | Preimplantation Genetic Testing-Aneuploidy (PGT-A) Embryo # 1 - 3 | Preimplantation Genetics |
| PGTA02 | Preimplantation Genetic Testing-Aneuploidy (PGT-A) Embryo # 4 & more | Preimplantation Genetics |
| PGTA03 | Preimplantation Genetic Testing-Aneuploidy (PGT-A) Embryo #6 & above | Preimplantation Genetics |
| PGTHLA | Preimplantation Genetic Testing-HLA | Preimplantation Genetics |
| PGTM01 | Preimplantation Genetic Testing-Monogenic (PGT-M) Disorders | Preimplantation Genetics |
| PGTSEQ | Preimplantation Genetic Testing-Sequencing Service | Preimplantation Genetics |
| PGTSR1 | Preimplantation Genetic Testing-Structural Rearrangement (PGT-SR) | Preimplantation Genetics |
| PNL218 | Premature ovarian failure (19 Genes) | Multigene |
| WESPRE | Prenatal ExomeSeq -(WES) + mtDNA Seq | Rare diseases |
| PNL220 | Primary ciliary dyskinesia (50 Genes) | Multigene |
| PNL221 | Primary congenital glaucoma and its differential diagnosis (13 Genes) | Multigene |
| PNL222 | Primary hemophagocytic lymphohistiocytosis and its differential diagnosis (8 Genes) | Multigene |
| PNL223 | Primary hyperoxaluria (3 Genes) | Multigene |
| PNL224 | Primary microcephaly (26 Genes) | Multigene |
| PNL219 | Primary Ovarian Insufficiency (72 Genes) | Multigene |
| PGTLIB | Processing Fee-Failed Amplification | Preimplantation Genetics |
| PNL225 | Progeroid syndromes (24 Genes) | Multigene |
| PNL226 | Progressive external ophthalmoplegia and its differential diagnosis (15 Genes) | Multigene |
| PROS1T | PROS1 Gene Genotyping | Single Gene |
| PNL227 | Pseudohypoaldosteronism (8 Genes) | Multigene |
| PNL228 | Pseudoxanthoma elasticum (3 Genes) | Multigene |
| RATPRE, RATMLP | Rapid Aneuploidy Test - Chr. 13, 18, 21, X, Y (PCR-CE) | Chromosome Studies |
| PNL229 | Refsum disease (5 Genes) | Neurogenetics |
| PNL230 | Renal cancer (19 Genes) | Oncogenetics |
| PNL231 | Renal Failure Gene Panel- Unexplained (259 Genes) | Multigene |
| PNL232 | Renal tubular acidosis (36 Genes) | Multigene |
| FCGT06 | Reproductive Carrier Screening; 1. Alpha Thalassaemia; 2. Beta Thalassaemia; 3. Spinal muscular atrophy (SMA); 4. Fragile X syndrome (FXS) | Multi Gene |
| REPHER | Reprogene HER | Multi Gene |
| REPHIS | Reprogene HIS | Multi Gene |
| PNL233 | Retinal dystrophies, nonsyndromic or paucisyndromic, extended (156 Genes) | Multigene |
| PNL234 | Retinitis pigmentosa, classic (65 Genes) | Multigene |
| PNL235 | Retinitis pigmentosa, extended (82 Genes) | Multigene |
| PNL236 | Rett and Rett-like syndrome disorders (11 Genes) | Multigene |
| RHDGTP | RhD Genotyping | Reproductive Genetics |
| PNL237 | RIDDLE syndrome and other radiosensitivities with immunodeficiency [incl. Nijmegen breakage syndrome, ataxia-telengectasia, severe combined immunodeficiency with Cernunnos, severe combined immunodeficiency Athabascan type, Immunodeficiency 26, LIG4 syndro | aa |
| PNL238 | Rubinstein-Taybi syndrome (2 Genes) | aa |
| RSSMYM | Russell-Silver Syndrome Methylation-Specific MLPA | Chromosome Studies |
| PNL239 | Seckel syndrome (9 Genes) | Multigene |
| PNL240 | Severe congenital neutropenia (8 Genes) | Multigene |
| PNL292 | Severe Congenital Neutropenia Panel | Oncogenetics |
| PNL241 | Sex Development, Differences (34 Genes) | Multigene |
| PNL245 | Short QT Syndrome (SQTS) - 5 Genes | Multigene |
| HLA003 | Sjögren's disease | Immunogenetics |
| PNL242 | Skeletal dysplasias, classic (59 Genes) | Multigene |
| PNL243 | Skeletal dysplasias, extended (68 Genes) | Multigene |
| PNL244 | Skin cancer (11 Genes) | Multigene |
| PGX006 | SLCO1B1 (rs4149056, c.521T>C, V174A) | Pharmacogenomics |
| PNL246 | Smith-Lemli-Opitz syndrome and its differential diagnosis, incl. Meckel-Gruber syndrome, Noonan syndrome, and Simpson-Golabi-Behmel syndrome and Pallister-Hall syndrome (51 Genes) | Multigene |
| PNL247 | Sotos syndrome (3 Genes) | Multigene |
| SEAHO1 | Southeast Asian Ovalocytosis | Haematogenetics |
| PNL248 | Spastic paraplegia, Hereditary (60 Genes) | Multigene |
| PNL249 | Spermatogenic failure (35 Genes) | Multigene |
| PNL250 | Spherocytosis (5 Genes) | Multigene |
| ABMAAR | SPINAL BULBAR MUSCULAR ATROPHY (CAG Repeat Expansion Testing in AR gene) | Neurogenetics |
| PNL251 | Spinal muscular atrophy (23 Genes) | Multigene |
| SMAMLB | Spinal Muscular Atrophy (SMA) MLPA-Blood | Single Gene |
| SMAMLA | Spinal Muscular Atrophy (SMA) MLPA-Prenatal | Single Gene |
| SMANGS | Spinal Muscular Atrophy (SMA) NGS | Neurogenetics |
| ATXN1R | Spinocerebellar Ataxia - Type 1 (ATXN1) | Neurogenetics |
| ATXN8R | Spinocerebellar Ataxia - Type 12 (ATXN8OS) | Neurogenetics |
| ATXN17 | Spinocerebellar Ataxia - Type 17 (TBP) | Neurogenetics |
| ATXN2R | Spinocerebellar Ataxia - Type 2 (ATXN2) | Neurogenetics |
| ATXN3R | Spinocerebellar Ataxia - Type 3 (MJD/ATXN3) | Neurogenetics |
| ATXN6R | Spinocerebellar Ataxia - Type 6 (CACNA1A) | Neurogenetics |
| ATXN7R | Spinocerebellar Ataxia - Type 7 (ATXN7) | Neurogenetics |
| SCACMP | Spinocerebellar Ataxia (SCA) - Comprehensive Panel (SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8 and SCA-17) | Neurogenetics |
| SCAFCS | Spinocerebellar Ataxia (SCA) - Focus Panel (SCA-1, SCA-2, SCA-3, SCA-6 and SCA-7) | Neurogenetics |
| PNL252 | Spinocerebellar ataxia, basic - SCA types 1, 2, 3, 6, 7, 17 (6 Genes) | Neurogenetics |
| PNL253 | Spinocerebellar ataxia, basic plus - SCA types 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 (10 Genes) | Neurogenetics |
| PNL254 | Spinocerebellar ataxia, classic (47 Genes) | Neurogenetics |
| PNL255 | Spinocerebellar ataxia, classic plus (48 Genes) | Neurogenetics |
| PNL256 | Spinocerebellar ataxia, Comprehensive (62 Genes) | Neurogenetics |
| PNL257 | Spondylometaphyseal dysplasias and its differential diagnosis ( 22 Genes) | Multigene |
| PNL258 | Stargardt disease (12 Genes) | Multigene |
| STENEC | Steven-Johnson Syndrome/Toxi Epidermal Necrosis/Carbamazepine-induced | Immunogenetics |
| PNL259 | Stickler syndrome (8 Genes) | Multigene |
| PNL260 | Sudden death, incl. cardiac arrhythmias (86 Genes) | CardioVascular Genetics |
| PNL261 | Surfactant metabolism dysfunction (10 Genes) | Multigene |
| PNL262 | | Multigene |
| TPMTPx | Thiopurine methyltransferase (TPMT) | Pharmacogenetics |
| PNL263 | Thrombocytopenia (42 Genes) | Multigene |
| PNL264 | Thrombophilia (31 Genes) | Multigene |
| THRMBP | Thrombophilia (Hotspot) | Multi Gene |
| PNL266 | Thyroid hormone resistance and congenital nongoitrous hypothyroidism (6 Genes) | Multigene |
| TP53SE | TP53 Gene Sequencing | Oncogenetics |
| PNL267 | Trichothiodystrophy (6 Genes) | Multigene |
| PNL268 | Tuberous sclerosis (2 Genes) | aa |
| PNL269 | Ullrich muscular dystrophy (3 Genes) | aa |
| CSTBRP | Unverricht-Lundborg Disease (Repeat expansions in the CSTB gene) | Neurogenetics |
| PNL270 | Urea cycle and hyperammonemia disorders (44 Genes) | aa |
| PNL271 | Usher syndrome type I, II, III and its differential diagnosis (14 Genes) | aa |
| PNL272 | Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, basic (13 Genes) | aa |
| PNL273 | Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, extended, incl. cone and cone-rode dystrophies (42 Genes) | aa |
| PNL274 | Vitreoretinopathy and Wagner syndrome (6 Genes) | aa |
| PGX005 | VKORC1 (-1639G>A) | Pharmacogenomics |
| PNL275 | Waardenburg syndrome (7 Genes) | aa |
| PNL276 | Walker-Warburg syndrome (6 Genes) | aa |
| PNL277 | Weill-Marchesani and Weill-Marchesani-like syndrome (4 Genes) | Multigene |
| WESIND | Whole Exome Sequencing (WES) + mtDNA Seq | MultiGene |
| MTDNA1 | Whole Mitochondrial Genome Sequencing | Multigene |
| WILATP | Wilson Disease (ATP7B gene sequencing) | Neurogenetics |
| PNL278 | X-linked/autosomal lymphoproliferative syndromes (4 Genes) | Oncogenetics |
| PNL279 | Xeroderma pigmentosum and its differential diagnosis (18 Genes) | Oncogenetics |
| YCMDEL | Y Chromosome Microdeletions | Single Gene |
| PNL280 | Zellweger syndrome (14 Genes) | Oncogenetics |
| PNL281 | Zimmermann-Laband syndrome (3 Genes) | Oncogenetics |