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) – 8 mutations screened
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
Achromatopsia NGS Panel – full sequencing across 6 genes plus BCM genes
Aicardi-Goutières Syndrome NGS Panel – full sequencing across 7 genes
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 sequencing across 31 genes
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 sequencing across 43 genes
Androgen Insensitivity – AR gene sequencing
Aneurysm/Connective Tissue Disorders/Ehlers-Danlos Syndrome NGS Panel – full sequencing across 46 genes + deletions/duplications
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel – full sequencing across 30 genes
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia NGS Panel – full sequencing across 39 genes
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 sequencing across 30 genes
Apert Syndrome – 2 common FGFR2 mutations
Apolipoprotein E genotype – E2, E3, E4
Array CGH (Comparative Genomic Hybridisation)
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) NGS Panel – sequencing across 46 genes + deletions/duplications
Ashkenazi Breast Cancer Screen – 3 common mutations
Ashkenazi Jewish Carrier Screen
Ataxia/Episodic Ataxia Disorders NGS Panel – full sequencing across 152 genes
Autoinflammation/Periodic Fever NGS Panel – full sequencing across 36 genes
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
B cell clonality assay (IgH and IgK)
Bardet-Biedl Syndrome NGS Panel – full sequencing across 24 genes
Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full sequencing across 14 genes
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) NEW
Bleeding and Platelet Gene Panel (unknown familial variants) NEW
Blood PCR for Chromosome 21
Bloom Syndrome – BLM gene sequencing
BRAF V600E mutation by PCR for Hairy Cell Leukaemia
Breast Cancer Ashkenazi Screen – 3 common mutations
Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications
Breast Cancer NGS Panel – full sequencing across 14 genes + deletions/duplications
Brugada Syndrome/Long-QT NGS Panel – full sequencing across 34 genes
C-KIT D816V mutation by PCR for Mastocytosis
CADASIL – NOTCH3 gene sequencing
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full sequencing across 38 genes
Calreticulin – CALR exon 9 mutation screen
Cancer, Comprehensive NGS Panel – full sequencing across 123 genes + deletions/duplications
Carbohydrate Metabolism Deficiency NGS Panel – full sequencing across 47 genes + deletions/duplications + mitochondrial DNA
Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full sequencing across 20 genes
Cardiomyopathy, Arrhythmogenic Right Ventricular NGS Panel – sequencing across 34 genes + deletions/duplications
Cardiomyopathy, Comprehensive NGS Panel – full sequencing across 111 genes + deletions/duplications
Cardiomyopathy, Dilated NGS Panel – full sequencing across 78 genes + deletions/duplications
Cardiomyopathy, Hypertrophic NGS Panel – full sequencing across 86 genes + deletions/duplications
Carrier Screen (Pan-ethnic or Jewish)
Charcot-Marie-Tooth Syndrome NGS Panel – full sequencing across 59 genes
Charcot-Marie-Tooth Type 1A – PMP22 duplications
CHARGE Syndrome – CHD7 gene sequencing
Chediak-Higashi Syndrome – LYST gene sequencing
Cholestasis, Intrahepatic NGS Panel – full sequencing across 15 genes
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 sequencing across 18 genes + deletions/duplications
Comparative Genomic Hybridisation (Array CGH)
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Congenital Central Hypoventilation Syndrome (CCHS) – full sequencing PHO X2B gene
Congenital Central Hypoventilation Syndrome (CCHS) – PHOX2B polyalanine repeat analysis
Congenital Muscular Dystrophy NGS Panel – full sequencing across 27 genes
Connective Tissue Disorders/Ehlers-Danlos Syndrome/Aneurysm NGS Panel – full sequencing across 46 genes + deletions/duplications
Connexin-26 Associated Deafness – full sequencing GJB2 gene (+ GJB6 common deletion)
Cornelia de Lange Syndrome NGS Panel – full sequencing across 8 genes
Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full sequencing across 20 genes
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 sequencing across 179 genes
Deafness, Non-Syndromic – GJB2 sequencing + GJB6 common deletion
Dentinogenesis/Amelogenesis Imperfecta NGS Panel – full sequencing across 31 genes
Diabetes Mellitus, MODY NGS Panel – full sequencing across 13 genes
Diabetes Mellitus, Neonatal NGS Panel – full sequencing across 26 genes
DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days)
DiGeorge Syndrome (22q11 & 10p14) – BOBs only
Dihydropyrimidine Dehydrogenase deficiency screening (Fluoropyrimidine Toxicity) – 5 mutations
Dilated Cardiomyopathy NGS Panel – full sequencing across 78 genes + deletions/duplications
DNA Extraction & Storage – 3 years (longer upon request)
DNA Identity Profile – 15 STR markers
Doyne Honeycomb Retinal Dystrophy – EFEMP1 screening
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 sequencing across 46 genes + deletions/duplications
Endometrial Cancer NGS Panel – full sequencing across 10 genes + deletions/duplications
Epidermolysis Bullosa, Comprehensive NGS Panel – full sequencing across 13 genes
Epidermolysis Bullosa, Simplex Panel – full sequencing of KRT5 + KRT14 genes
Epilepsy, Adolescent/Adult Onset Panel – sequencing across 83 genes + deletions/duplications
Epilepsy, Childhood Panel – full sequencing across 211 genes + deletions/duplications
Epilepsy, Comprehensive NGS Panel – full sequencing across 400 genes + deletions/duplications
Epilepsy, Neonatal Panel – sequencing across 278 genes + deletions/duplications
Epilepsy, Progressive Myoclonic Panel – sequencing across 18 genes + deletions/duplications
Exudative Vitreoretinopathy, Familial (FEVR) NGS Panel – full sequencing NDP + FZD4 + LRP5 + TSPAN12 + ZNF408 genes
Eye Developmental Disease NGS Panel – full sequencing across 59 genes
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 sequencing across 18 genes + deletions/duplications
Familial Exudative Vitreoretinopathy (FEVR) NGS Panel – full sequencing NDP + FZD4 + LRP5 + TSPAN12 + ZNF408 genes
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 sequencing across 22 genes
Fever (Recurrent) Screening – across 4 genes NEW
FLT3-ITD and FLT3-TKD screening assay
Fragile X Syndrome screen – FMR1 repeat analysis PCR (3 weeks) + Southern Blot (8 weeks) if required
Friedreich Ataxia – frataxin gene repeat analysis
Gastric Cancer NGS Panel – full sequencing across 15 genes + deletions/duplications
Gaucher Disease – 8 common mutations
Gaucher Disease full gene sequencing
Genetic Reproductive Profile (Male)
Gilbert Syndrome – common UGT1A1 repeat variation
Glaucoma NGS Panel – full gene sequencing across 26 genes
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 sequencing across 15 genes
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 sequencing across 179 genes
Hemiplegic Migraine, Familial NGS Panel – full sequencing across 6 genes + mtDNA
Hereditary Cancer NGS Panel, Comprehensive – full sequencing across 127 genes + deletions/duplications
Hereditary Hemorrhagic Telangiectasia – ACVRL1 + ENG full sequencing + deletions/duplications
Hereditary Neuropathy NGS Panel – full sequencing across 39 genes
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hereditary Non-Polyposis Colon Cancer (Lynch Syndrome) NGS Panel – full sequencing across 18 genes + deletions/duplications
Hereditary Pancreatitis – PRSS1 hotspot sequencing + deletions/duplications + SPINK1 N34S common mutation
Hereditary Spastic Paraplegia NGS Panel – full sequencing across 262 genes + deletions/duplications + mitochondrial DNA
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation NGS Panel – full sequencing across 30 genes
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 sequencing across 8 genes
Hyperparathyroidism – CASR sequencing
Hypertriglyceridemia NGS Panel – full sequencing across 47 genes
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 sequencing across 560 genes + deletions/duplications
Intrahepatic Cholestasis NGS Panel – full sequencing ABCB11 + ABCB4 + ATP8P1
Iron Overload Profile
JAK 2 – exon 12 sequencing (rare mutations)
JAK2 V617F genotyping assay
Jervell and Lange-Nielsen Syndrome – full sequencing KCNE1 + KCNQ1 genes
Jewish Panel Carrier Screen
Jewish/Pan-ethnic carrier screening
Joubert/Meckel-Gruber Syndrome NGS Panel – full sequencing across 39 genes
Kallmann Syndrome NGS Panel – full sequencing across 19 genes
Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion
Ketolysis Disorders NGS Panel – full sequencing across 7 genes
Kidney/Urinary Tract Cancer NGS Panel – full sequencing across 27 genes + 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 sequencing across 32 genes
Lebers Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common mutations
Leigh Syndrome NGS Panel – full sequencing across 78 genes + deletions/duplications + mitochondrial DNA
LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full sequencing across 20 genes
Leukaemia Fusion Gene Screening Assay (Q30)
Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA
Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel – full sequencing across 34 genes
Lissencephaly NGS Panel – full sequencing across 14 genes
Loeys-Dietz Syndrome/Marfan Syndrome/Aortopathy NGS Panel – full sequencing across 30 genes
Long-QT Syndrome/Brugada Syndrome – full sequencing across 34 genes
Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing + large deletions
Lung Disorders NGS Panel – full sequencing across 51 genes
Lynch Syndrome (HNPCC) NGS Panel – full sequencing across 18 genes + deletions/duplications
Lysosomal Disorders NGS Panel – full sequencing across 106 genes
Male Genetic Reproductive Profile
Marfan Syndrome – FBN1 sequencing + deletions/duplications
Marfan Syndrome/Loeys-Dietz Syndrome/Aortopathy NGS Panel – full sequencing across 30 genes
Maturity-Onset Diabetes of the Young (MODY) NGS Panel – full sequencing across 14 genes
Meckel-Gruber/Joubert Syndrome NGS Panel – full sequencing across 39 genes
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Melanoma NGS Panel – full sequencing across 14 genes + deletions/duplications
Microdeletion (common) Syndromes – BOBs only
Microphthalmia/Anophthalmia/Coloboma NGS Panel – full sequencing across 39 genes
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 sequencing across 43 genes
MPL exon 10 analysis
MTHFR – common C677T + A1298C mutations
Mucopolysaccharidosis NGS Panel – full sequencing across 11 genes
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 sequencing across 14 genes
Nervous System/Brain Cancer NGS Panel – full sequencing across 27 genes + 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 sequencing across 14 genes
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 sequencing across 20 genes
NPM1 mutascreen assay
Nystagmus, X-linked Infantile – FRMD7 gene sequencing
Oculocutaneous Albinism/Hermansky-Pudlak Syndrome/Pigmentation NGS Panel – full sequencing across 30 genes
Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis
Optic Atrophy NGS Panel – full sequencing OPA1 + OPA3 genes
Osteogenesis Imperfecta NGS Panel – full sequencing across 14 genes
Ovarian Cancer NGS Panel – full sequencing across 16 genes + deletions/duplications
p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA
Pan-Ethnic/Jewish Carrier Screening
Pancreatic Cancer NGS Panel – full sequencing across 22 genes + deletions/duplications
Pancreatitis (Hereditary) – PRSS1 hotspot sequencing + deletions/duplications + SPINK1 N34S common mutation
Paraganglioma/Pheochromocytoma NGS Panel – full sequencing across 11 genes + 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 sequencing across 36 genes
Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications
Phelan-McDermid Syndrome – karyotype + FISH
Pheochromocytoma/Paraganglioma NGS Panel – full sequencing across 11 genes + deletions/duplications
Pigmentation/Oculocutaneous Albinism/ Hermansky-Pudlak Syndrome NGS Panel – full sequencing across 30 genes
POLG-Related Disorders – full POLG sequencing + copy number variant
Polycystic Kidney/NGS Panel – full sequencing across 7 genes
Pontocerebellar Hypoplasia NGS Panel – full sequencing across 9 genes
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 sequencing of 38 genes
Primary Hyperoxaluria Panel – full sequencing across 3 genes + 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 across 12 genes + 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 – across 4 genes NEW
Recurrent Miscarriage Profile (female)
Renal Cysts and Diabetes (RCAD) – HNF-1β sequencing + deletions/duplications
Renal/Urinary Tract Cancer NGS Panel – full sequencing across 28 genes + deletions/duplications
Retinal Dystrophy/NGS Panel – full sequencing across 537 genes
Retinoblastoma – RB1 sequencing + deletions/duplications
Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications
Rett/Angelman Syndromes NGS Panel – full sequencing across 30 genes
Sarcoma NGS Panel – full sequencing across 26 genes + 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 sequencing across 179 genes
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 sequencing across 262 genes + 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 sequencing across 13 genes
Stickler Syndrome NGS Panel – full sequencing across 11 genes
Systemic mastocystosis – C-Kit common mutation (KIT D816V)
T cell clonality assay (TCR beta and TCR gamma)
Tay Sachs Screen – 5 common mutations. See also Pan-Ethnic/Jewish Carrier Profile
Thrombosis Gene Panel (known familial variants) NEW
Thrombosis Gene Panel (unknown familial variants) NEW
Thrombotic Risk Profile
Thyroid Cancer NGS Panel – full sequencing across 7 genes + 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 sequencing across 28 genes + deletions/duplications
Usher Syndrome NGS Panel – full sequencing across 19 genes
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 sequencing across 12 genes
Zygosity testing – comparative DNA profile