Genetics tests

If you do not find the test you require in this directory, or need more information and advice please telephone the laboratory on 020 7307 7409.

Please use the search box below to filter this list

Test name
1p36 Deletion Syndrome – karyotype + FISH
21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
Achromatopsia NGS Panel – full gene sequencing
Aicardi-Goutières Syndrome NGS Panel – full gene sequencing
Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes
Alpha Fetoprotein on Amniotic fluid
Alpha Thalassaemia – multiplex PCR for common large deletions
Alpha-1-Antitrypsin Genotype – PI*M, PI*S, PI*Z
Alport Syndrome NGS Panel – full sequencing COL4A3 + COL4A4 + COL4A5 + MYH9 genes
Amelogenesis/Dentinogenesis Imperfecta NGS Panel – full gene sequencing
AML/ALL Molecular MRD – NPM1, PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, ETV6-RUNX1
AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Amniocentesis – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Amniocentesis culture (karyotype) only
AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR
Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full gene sequencing
Androgen Insensitivity – AR gene sequencing
Aneurysm/Connective Tissue Disorders/Ehlers-Danlos Syndrome NGS Panel – full gene sequencing + deletions/duplications
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel – full gene sequencing
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia NGS Panel – full gene sequencing
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Known Genotype)
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Unknown Genotype)
Aortopathy/Marfan Syndrome/Loeys-Dietz Syndrome NGS Panel – full gene sequencing
Apert Syndrome – common FGFR2 mutations
Apolipoprotein E genotype – E2, E3, E4
Array CGH (Comparative Genomic Hybridisation)
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) NGS Panel – sequencing + deletions/duplications
Ashkenazi Breast Cancer Screen – common mutations
Ashkenazi Jewish Carrier Screen
Ataxia/Episodic Ataxia Disorders NGS Panel – full gene sequencing
Autoinflammation/Periodic Fever NGS Panel – full gene sequencing
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
B cell clonality assay (IgH and IgK)
Bardet-Biedl Syndrome NGS Panel – full gene sequencing
Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full gene sequencing
BCR-ABL Diagnostic Assay
BCR/ABL Quantitative – fusion gene sizes p190 + p210
Becker Muscular Dystrophy – deletions/duplications
Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Behcet’s Disease – HLA Tissue Typing B*51
Beta Thalassaemia – beta-globin gene sequencing
Bleeding and Platelet Gene Panel (known familial variants)
Bleeding and Platelet Gene Panel (unknown familial variants)
Blood PCR for Chromosome 21
BRAF V600E mutation by PCR for Hairy Cell Leukaemia
Breast Cancer Ashkenazi Screen – common mutations
Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications
Breast Cancer NGS Panel – full gene sequencing
Brugada Syndrome/Long-QT NGS Panel – full gene sequencing
C-KIT D816V mutation by PCR for Mastocytosis
CADASIL – NOTCH3 gene sequencing
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full gene sequencing
Calreticulin – CALR exon 9 mutation screen
Cancer, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
Carbohydrate Metabolism Deficiency NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full gene sequencing
Cardiomyopathy, Arrhythmogenic Right Ventricular NGS Panel – sequencing + deletions/duplications
Cardiomyopathy, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
Cardiomyopathy, Dilated NGS Panel – full gene sequencing + deletions/duplications
Cardiomyopathy, Hypertrophic NGS Panel – full gene sequencing + deletions/duplications
Carrier Screen (Ashkenazi Jewish)
Carrier Screen (Ashkenazi Jewish) – Partnered Report
Carrier Screen (Pan-Ethnic)
Carrier Screen (Pan-Ethnic) – Partnered Report
Charcot-Marie-Tooth Syndrome NGS Panel – full gene sequencing
Charcot-Marie-Tooth Type 1A – PMP22 duplications
CHARGE Syndrome – CHD7 gene sequencing
Chediak-Higashi Syndrome – LYST gene sequencing
Cholestasis, Intrahepatic NGS Panel – full gene sequencing
Chromosome Analysis (Amniocentesis) – culture only
Chromosome Analysis (Amniocentesis) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Amniocentesis) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Blood)
Chromosome Analysis (Chorionic Villus) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – culture only
Chromosome Analysis (Products of Conception)
Chromosome Analysis (Products of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days)
Chromosome Analysis (Solid Tissue)
Chromosome Analysis (Stem Cells)
Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY
Cockayne Syndrome NGS Panel – full sequencing ERCC6 + ERCC8
Coeliac Disease – HLA DQ2/DQ8 Genotype
Colorectal Cancer NGS Panel – full gene sequencing + deletions/duplications
Comparative Genomic Hybridisation (Array CGH)
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Congenital Muscular Dystrophy NGS Panel – full gene sequencing
Connective Tissue Disorders/Ehlers-Danlos Syndrome/Aneurysm NGS Panel – full gene sequencing + deletions/duplications
Connexin-26 Associated Deafness – full sequencing of GJB2 gene
Connexin-30 Associated Deafness – full sequence of the GJB6 gene
Cornelia de Lange Syndrome NGS Panel – full gene sequencing
Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full gene sequencing
Craniosynostosis and related disorders NGS Panel
Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days)
Cri du Chat Syndrome – BOBs only
CVS PCR for common aneuploidies (2 days) + culture (10-15 days)
CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (3-5 days) + culture (10-15 days)
CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
CYP450 2D6 Genotyping
Cystic Fibrosis (139 common mutations) – reflex to Poly T when required
Deafness NGS Panel – full gene sequencing
Dentinogenesis/Amelogenesis Imperfecta NGS Panel – full gene sequencing
Diabetes – Obesity NGS Panel NEW
Diabetes Panel – MODY + Neonatal
DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days)
DiGeorge Syndrome (22q11 & 10p14) – BOBs only
Dihydropyrimidine Dehydrogenase deficiency screening (Fluoropyrimidine Toxicity)
Dilated Cardiomyopathy NGS Panel – full gene sequencing + deletions/duplications
DNA Extraction & Storage – 3 years (longer upon request)
DNA Identity Profile – 15 STR markers
Duchenne Muscular Dystrophy – deletions/duplications only
Duchenne Muscular Dystrophy – full sequencing DMD1 gene
DVT/Pre-travel Screen
Ehlers-Danlos Syndrome/Aneurysm/Connective Tissue Disorders NGS Panel – full gene sequencing + deletions/duplications
Endometrial Cancer NGS Panel – full gene sequencing + deletions/duplications
Epidermolysis Bullosa, Comprehensive NGS Panel – full sequencing
Epidermolysis Bullosa, Simplex Panel – full sequencing of KRT5 + KRT14 genes
Epilepsy, Adolescent/Adult Onset Panel – sequencing + deletions/duplications
Epilepsy, Comprehensive NGS Panel – full sequencing + deletions/duplications
Epileptic Encephalopathy NGS Panel
Exudative Vitreoretinopathy, Familial (FEVR) NGS Panel – full gene sequencing
Eye Developmental Disease NGS Panel – full gene sequencing
Fabry Disease, X-linked – GLA gene sequencing
Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Factor II Prothrombin – G20210A mutation
Factor V Leiden – G1691A mutation
Factor VII Deficiency – F7 Gene Variant Analysis (Known Genotype)
Factor VII Deficiency – F7 Gene Variant Analysis (Unknown Genotype)
Factor X Deficiency – F10 Gene Variant Analysis (Known Genotype)
Factor X Deficiency – F10 Gene Variant Analysis (Unknown Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Known Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Unknown Genotype)
Familial Adenomatous Polyposis (FAP) – full gene sequencing + deletions/duplications
Familial Exudative Vitreoretinopathy (FEVR) NGS Panel – full gene sequencing
Familial Hypercholesterolaemia – LDLR + APOB + PCSK9 + LDLRAP1 screening
Familial Hypocalciuric Hypercalcaemia (FHH) Panel – full sequencing CASR + AP2S1 + GNA11 genes
Familial Mediterranean Fever – hotspot sequencing MEFV gene
Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene
Fatty Acid Oxidation Deficiency NGS Panel – full gene sequencing
Fever (Recurrent) Screening
FLT3-ITD and FLT3-TKD screening assay
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Friedreich Ataxia – frataxin gene repeat analysis
Gastric Cancer NGS Panel – full gene sequencing + deletions/duplications
Gaucher Disease
Gaucher Disease full gene sequencing
Genetic Reproductive Profile (Male)
Gilbert Syndrome – common UGT1A1 repeat variation
Glaucoma NGS Panel – full gene sequencing
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing
Glycogen storage disease type 2 (Pompe) mutation analysis
Haemochromatosis – HFE common mutations C282Y + H63D
Haemolytic–Uremic Syndrome NGS Panel – full gene sequencing
Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Unknown Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of unknown variants for F8 gene
Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Unknown Genotype) – Sequence analysis of unknown variants for F9
Harmony® Prenatal Test (Non-Invasive Prenatal Testing) – common aneuploidy screening from maternal blood
Hearing Loss NGS Panel – full gene sequencing
Hemiplegic Migraine, Familial NGS Panel – full gene sequencing + mtDNA
Hereditary Cancer NGS Panel, Comprehensive – full gene sequencing + deletions/duplications
Hereditary Hemorrhagic Telangiectasia – ACVRL1 + ENG full sequencing + deletions/duplications
Hereditary Neuropathy NGS Panel – full gene sequencing
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hereditary Colon Cancer (Lynch Syndrome) NGS Panel – full gene sequencing + deletions/duplications
Hereditary Spastic Paraplegia NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation NGS Panel – full gene sequencing
HFE gene (Haemochromatosis) – common mutations C282Y + H63D
Hirschprung Disease NGS Panel – full sequencing across 6 genes + copy number variant
HLA Tissue Typing A
HLA Tissue Typing A+B
HLA Tissue Typing A+B+C (Class I)
HLA Tissue Typing A/B/DRB1/3/4/5
HLA Tissue Typing A/B/DRB1/3/4/5/DQB1
HLA Tissue Typing A/B/C/DRB1/3/4/5/DQB1 (Class I & II)
HLA Tissue Typing B
HLA Tissue Typing B*27 only
HLA Tissue Typing B*51 (Behcet’s Disease)
HLA Tissue Typing B*57:01 high resolution
HLA Tissue Typing C
HLA Tissue Typing Coeliac Disease – DQ2/DQ8
HLA Tissue Typing DRB1/3/4/5
HLA Tissue Typing DRB1/3/4/5/DQB1 (Class II)
HLA Tissue Typing Narcolepsy – DQB1*06:02
Huntington Disease – HD gene repeat analysis PCR
Hyperinsulinism NGS Panel – full gene sequencing
Hyperparathyroidism – CASR sequencing
Identity Profile (DNA) – 15 STR markers
IDH1/2 screening assay NEW
IgVH mutation analysis for CLL
Incontinentia Pigmenti, X-linked – IKBKG/NEMO common mutation
Intellectual Disability NGS Panel – full gene sequencing + deletions/duplications
Intrahepatic Cholestasis NGS Panel – full sequencing ABCB11 + ABCB4 + ATP8P1
Iron Overload Profile
JAK2 – exon 12 sequencing (rare mutations)
JAK2 V617F genotyping assay
Jervell and Lange-Nielsen Syndrome – full sequencing KCNE1 + KCNQ1 genes
Joubert/Meckel-Gruber Syndrome NGS Panel – full gene sequencing
Kallmann Syndrome NGS Panel – full gene sequencing
Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion
Ketolysis Disorders NGS Panel – full gene sequencing
Kidney/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications
Krabbe Disease – GALC sequencing + 502T/del common deletion
KRAS/NRAS screening assay NEW
Lactose Intolerance Gene
Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days)
Langer-Giedion Syndrome – BOBs only
Leber’s Congenital Amaurosis NGS Panel – full gene sequencing
Leber’s Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common mutations
Leigh Syndrome NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Leukaemia Fusion Gene Screening Assay (Q30)
Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA
Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel – full gene sequencing
Lissencephaly NGS Panel – full gene sequencing
Loeys-Dietz Syndrome/Marfan Syndrome/Aortopathy NGS Panel – full gene sequencing
Long-QT Syndrome/Brugada Syndrome – full gene sequencing
Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing
Lung Disorders NGS Panel – full gene sequencing
Lynch Syndrome (HNPCC) NGS Panel – full gene sequencing + deletions/duplications
Lysosomal Disorders NGS Panel – full gene sequencing
Male Genetic Reproductive Profile
Marfan Syndrome – FBN1 sequencing + deletions/duplications
Marfan Syndrome/Loeys-Dietz Syndrome/Aortopathy NGS Panel – full gene sequencing
Maturity-Onset Diabetes of the Young (MODY) Diabetes
Meckel-Gruber/Joubert Syndrome NGS Panel – full gene sequencing
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Melanoma NGS Panel – full gene sequencing + deletions/duplications
Microdeletion (common) Syndromes – BOBs only
Microphthalmia/Anophthalmia/Coloboma NGS Panel – full gene sequencing
Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days)
Miller-Dieker Syndrome – BOBs only
Mitochondrial genome – full mitochondrial DNA sequencing + deletions
Mitochondrial genome sequencing
Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full gene sequencing
MPL exon 10 analysis
MTHFR – common C677T + A1298C mutations
Mucopolysaccharidosis NGS Panel – full gene sequencing
Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing
Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing
Myotonic Dystrophy Type 1 – DMPK repeat PCR
Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR
Narcolepsy (HLA DQB1*06:02)
Nephrotic Syndrome, Steroid-Resistant NGS Panel – full gene sequencing
Nervous System/Brain Cancer NGS Panel – full gene sequencing + deletions/duplications
Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + deletions/duplications
Neurofibromatosis Type 2 (Bilateral Acoustic) – NF2 sequencing + deletions/duplications
Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel – full gene sequencing
Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood
Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only
Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
NPM1 mutascreen assay
Nystagmus, X-linked Infantile – FRMD7 gene sequencing
Oculocutaneous Albinism/Hermansky-Pudlak Syndrome/Pigmentation NGS Panel – full gene sequencing
Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis
Optic Atrophy NGS Panel – full sequencing OPA1 + OPA3 genes
Osteogenesis Imperfecta NGS Panel – full gene sequencing
Ovarian Cancer NGS Panel – full gene sequencing + deletions/duplications
p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA
Pancreatic Cancer NGS Panel – full gene sequencing + deletions/duplications
Paraganglioma/Pheochromocytoma NGS Panel – full gene sequencing + deletions/duplications
Paternity Testing (postnatal and prenatal) – sample required from each person being tested (3 people)
Pelizaeus-Merzbacher Disease – PLP1 sequencing + deletions/duplications
Pendred Syndrome – SLC26A4 gene sequencing
Periodic Fever/Autoinflammation NGS Panel – full gene sequencing
Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications
Phelan-McDermid Syndrome – karyotype + FISH
Pheochromocytoma/Paraganglioma NGS Panel – full gene sequencing + deletions/duplications
Pigmentation/Oculocutaneous Albinism/Hermansky-Pudlak Syndrome NGS Panel – full gene sequencing
POLG-Related Disorders – full POLG sequencing + copy number variant
Polycystic Kidney/NGS Panel – full gene sequencing
Pontocerebellar Hypoplasia NGS Panel – full gene sequencing
Postnatal array CGH
Prader-Willi Syndrome (Primary Screen) – methylation PCR
Prenatal array CGH
Prenatal Diagnosis (BOBs + Culture)
Prenatal Diagnosis for haemoglobinopathies
Pre-Travel Screen (DVT)
Primary Ciliary Dyskinesia (PCD) NGS Panel – full gene sequencing
Primary Hyperoxaluria Panel – full gene sequencing + CNV
Products of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days)
Products of Conception (BOBs + Culture)
Products of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes
Prostate Cancer NGS Panel – full sequencing + deletions/duplications
Protein C Deficiency – PROC Gene Variant Analysis (Known Genotype)
Protein C Deficiency – PROC Gene Variant Analysis (Unknown Genotype)
Pseudoachondroplasia (Multiple Epiphyseal Dysplasia) – COMP hotspot sequencing
PTEN-related disorders (including Bannayan-Riley-Ruvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications
QF-PCR rapid common aneuploidy screen
Recurrent Fever Screening
Recurrent Miscarriage Profile (female)
Renal Cysts and Diabetes (RCAD) – HNF-1β sequencing + deletions/duplications
Renal/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications
Retinal Dystrophy/NGS Panel – full gene sequencing
Retinoblastoma – RB1 sequencing + deletions/duplications
Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications
Rett/Angelman Syndromes NGS Panel – full gene sequencing
Sarcoma NGS Panel – full gene sequencing + deletions/duplications
Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing
Short Stature – SHOX mutation screening + deletions/duplications
Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Skeletal Dysplasia NGS Panel – full gene sequencing
Smith-Lemli-Opitz Syndrome – DHCR7 sequencing
Smith-Magenis Syndrome – BOBs (5 days) + karyotype (15 days)
Smith-Magenis Syndrome – BoBs only
Sotos Syndrome (Cerebral Gigantism) – NSD1 sequencing + deletions/duplications
Spastic Paraplegia NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
Spinal Bulbar Muscular Atrophy (Kennedy Disease) – AR repeat analysis
Spinal Muscular Atrophy – SMN1 deletions/duplications
Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 common repeat expansions
SRY (Sex-determining Region Y)
Stargardt/Macular Dystrophy NGS Panel – full gene sequencing
Stickler Syndrome NGS Panel – full gene sequencing
Systemic mastocystosis – C-Kit common mutation (KIT D816V)
T cell clonality assay (TCR beta and TCR gamma)
Tay Sachs Screen – common mutations. See also Carrier Screen (Ashkenazi Jewish/Pan-Ethnic)
Thrombosis Gene Panel (known familial variants) NEW
Thrombosis Gene Panel (unknown familial variants) NEW
Thrombotic Risk Profile
Thyroid Cancer NGS Panel – full gene sequencing + deletions/duplications
Torsion Dystonia (DYT1) – TOR1A common mutation c.904-906delGAG
Treacher-Collins Syndrome NGS Panel – full sequencing POLR1C + POLR1D + TCOF1
Tuberous Sclerosis – full TSC1 + TSC2 gene sequencing
Uni Parental Disomy (UPD) – parents and child
Urinary Tract/Renal Cancer NGS Panel – full gene sequencing + deletions/duplications
Usher Syndrome NGS Panel – full gene sequencing
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing
Von Hippel-Lindau Syndrome – VHL sequencing + deletions/duplications
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Unknown Genotype)
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only
Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY
Zellweger Syndrome NGS Panel – full gene sequencing
Zygosity testing – comparative DNA profile