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HSL Genetics test library

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
ALL Genome profile
Alpha Fetoprotein on Amniotic fluid
Alpha Thalassaemia – multiplex PCR and HBA MLPA for large deletions
Alpha Thalassaemia – multiplex PCR for common large deletions
Alpha-1 Antitrypsin Genotype – PI*M, PI*S, PI*Z
Alport Syndrome NGS Panel – full sequencing with duplications and deletions
AML/ALL Molecular MRD – NPM1, PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, ETV6-RUNX1
AML Genome profile
AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Amniocentesis culture (karyotype) only
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)
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/Coloboma NGS Panel – full gene sequencing
Aortopathy/Marfan Syndrome and Thoracic Aortic and Dissection NGS Panel – full gene sequencing
Apert Syndrome – common FGFR2 mutations
Apolipoprotein E genotype – E2, E3, E4
Array CGH (Comparative Genomic Hybridisation)
Ashkenazi Breast Cancer Screen – common variants
Ashkenazi Jewish Carrier Screen
Ataxia 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/Duchenne 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
Beta Thalassaemia – beta-globin gene sequencing, ARMS PCT, RE-PCR, Gap-PCR, HBB MLPA
Blood PCR for Chromosome 13, 18, 21 and sex chromosomes
Breast Cancer Ashkenazi Screen – common variants
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 variant by PCR for Mastocytosis
CADASIL – NOTCH3 gene sequencing
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full gene sequencing
Cancer, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full gene sequencing
Cardiomyopathy, Dilated NGS Panel – full gene sequencing + deletions/duplications
Cardiomyopathy, Hypertrophic NGS Panel – full gene sequencing + deletions/duplications
Cardiovascular, Comprehensive 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
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 PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – culture only
Chromosome Analysis (Chorionic Villus)– rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Product of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days)
Chromosome Analysis (Products of Conception)
Chromosome Analysis (Solid Tissue)
Chromosome Analysis (Stem Cells) - Rapid BOBs aneuploidy DNA analysis for all chromosomes (5 days)
Chromosome banding karyotype
Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY
CLL Genome profile
CLL Prognostification FISH screen
Coeliac Disease – HLA DQ2/DQ8 genotyping
Colorectal Cancer NGS Panel – full gene sequencing + deletions/duplications
Comparative Genomic Hybridisation (Array CGH)
Comprehensive Neuropathy NGS Panel – full gene sequencing
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Connective Tissue Disorders/Ehlers-Danlos Syndrome/Aneurysm NGS Panel – full gene sequencing + deletions/duplications
Cornelia de Lange Syndrome NGS Panel – full gene sequencing
Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full gene sequencing
Craniosynostosis 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
Cystic Fibrosis (139 common variants) – reflex to Poly T when CFS required
Cytochrome P450 2C19 (CYP2C19) genotyping
Deafness NGS Panel – full gene sequencing
Diabetes Panel – Obesity NGS
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 NGS Panel – full sequencing
Epilepsy, Adolescent/Adult Onset Panel – sequencing + deletions/duplications
Epilepsy, Comprehensive NGS Panel – full sequencing + deletions/duplications
Fabry Disease, X-linked – GLA gene sequencing
Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Factor II Prothrombin – G20210A variant
Factor V Leiden – G1691A variant
Familial Adenomatous Polyposis (FAP) – full gene sequencing + deletions/duplications
Familial Exudative Vitreoretinopathy (FEVR) NGS Panel– full gene sequencing
Familial Hypercholesterolaemia NGS Panel
Familial Hypocalciuric Hypercalcaemia (FHH) Panel – full sequencing CASR + AP2S1 + GNA11 genes
Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene
Fatty Acid Oxidation Disorders NGS Panel – full gene sequencing
FLT3-ITD and FLT3-TKD screening assay
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Friedreich Ataxia – frataxin gene repeat analysis
Gaucher disease – full gene sequencing
Genetic Reproductive Profile (Male)
Gilbert Syndrome – common UGT1A1 repeat variation
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing
Glycogen storage disease type 2 (Pompe) mutation analysis
Haemochromatosis – HFE common variants C282Y + H63D
Haemoglobin variants (alpha and beta globin gene variants) including sickle cell – ARMS PCR, RE-PCR, alpha and beta gene sequencing
Haemophilia A (Severe) – Factor VIII (F8) common 1/22 intron inversion
Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Hearing Loss NGS Panel – full gene sequencing
Hereditary Cancer NGS Panel, Comprehensive – full gene sequencing + deletions/duplications
Hereditary Colon Cancer (Lynch Syndrome) NGS Panel – full gene sequencing + deletions/duplications
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hereditary Spastic Paraplegia NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
HFE gene (Haemochromatosis) – common variants C282Y + H63D
Hirschprung Disease NGS Panel – full gene sequencing with deletions and duplications
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
HPFH and δβthalassaemia – Gap PCR, HBB MLPA, beta and gamma globin gene sequencing
Huntington Disease – HD gene repeat analysis PCR
Hyperinsulinism NGS Panel – full gene sequencing
Hyperparathyroidism – CASR sequencing
Identity Profile (DNA) – 15 STR markers
IgVH mutation analysis for CLL
Inherited bleeding and platelet disorders (R90)
Intellectual Disability NGS Panel – full gene sequencing + deletions/duplications
Iron Overload Profile
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
Kidney/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications
Krabbe Disease – GALC sequencing + 502T/del common deletion
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 variants
Leigh and Leigh Like Syndrome NGS Panel – full gene sequencing + deletions/duplications
LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Leukaemia (Rapid Acute) DNA and RNA NGS Panel
Leukaemia Fusion Gene Screening Assay (Q30)
Leukaemia/Lymphoma RNA Sequencing (Fusion Gene and SNV/Indel) Panel
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/Aortic Aneurysm and Dissection 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 Storage Disorders NGS Panel – full gene sequencing
Male Genetic Reproductive Profile
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel – full gene sequencing
Marfan Syndrome – FBN1 sequencing + deletions/duplications
Maturity-Onset Diabetes of the Young (MODY) NGS Panel – full gene sequencing
MDS Genome profile
Meckel-Gruber/Joubert Syndrome NGS Panel – full sequencing across 38 genes
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Melanoma Comprehensive Cancer 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 sequencing
Mitochondrial genome – full mitochondrial DNA sequencing + deletions
Molecular Karyotyping
Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full gene sequencing
MPD Genome profile
MTHFR – common C677T + A1298C variants
Mucopolysaccharidosis NGS Panel – full gene sequencing
Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing
Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing
Myeloid Gene Panel
Myeloma FISH high risk markers screen
Myeloma Genome profile
Myeloproliferative Neoplasm NGS Screening Panel
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
Next-generation 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
Nystagmus, X-linked Infantile – FRMD7 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
Pre-Travel Screen (DVT)
Prenatal array CGH
Prenatal Diagnosis (BOBs + Culture)
Primary Ciliary Dyskinesia (PCD) NGS Panel – full gene sequencing
Primary Hyperoxaluria Panel – full gene sequencing + CNV
Product of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes
Product of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days)
Prostate Cancer NGS Panel – full gene sequencing + deletions/duplications
PTEN-related disorders (including Bannayan-Riley-Ruvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications
QF-PCR rapid common aneuploidy screen
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 Detachment NGS Panel – full sequencing across 25 genes
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
Short Stature – SHOX variant screening + deletions/duplications
Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing
Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Single FISH test as per request
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 NGS Panel – full gene sequencing
Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 common repeat expansions
SRY (Sex-determining Region Y)
Systemic mastocystosis – C-Kit common mutation (KIT D816V)
T cell clonality assay (TCR beta and TCR gamma)
Tay Sachs Screen – common variants
Thrombophilia with a likely monogenic cause (R97)
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
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
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only
Xmn and gamma gene – gamma globin gene sequencing, RE PCR
Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY
Zellweger Syndrome NGS Panel – full gene sequencing
Ziwig Endotest®
Zygosity testing – comparative DNA profile