genotype testing near me

How sensitive your body is to the amount of protein in your diet. Studies have found that depending on your genetic type, you’ll be more successful at losing weight by following the specific type of diet and exercise that is most appropriate for your metabolism and risk factors. that is necessary for cell growth and metabolism and is especially important for pregnant women. Bellaire, TX 77401 Once collected, the swab is mailed directly to our lab for analysis. Do not include any personal or financial information. 4914 Bissonet St. #100 Through our genetic testing, we can identify your genetic makeup, or genotype, and then design a diet and exercise program customized to your body’s specific needs. As a result, you are also not required to disclose genetic information to an employer or insurer. The service is provided from Tooting, Colindale, Birmingham, Barnsley, Filton and Newcastle sites, and is available for referrals from all customers. Equilibrium Weight Loss and Longevity® and Equilibrium Functional Nutrition™ are trademarks of BizInBoxMD, LLC. Prior results do not guarantee the same or similar outcome. If you have registered the saliva swab kit and sent it to our lab to be processed and no longer wish to purchase our service, we will refund the balance of the total purchase price less shipping costs and a $200 processing fee; which includes our lab and swab kit costs. © 2018 BizInBoxMD, LLC. In addition, Equilibrium will not respond to any request for test results from an insurer, employer or any other entity. Blood grouping results will be reported as phenotype or genotype depending on the method employed. 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. You will learn how your body responds to fat, protein and carbohydrate intake in relation to how you’ll use them for energy, and thus, how best to eat in order to lose body fat. Equilibrium Dallas Southlake, TX 76092 Genetics tests. Email: patientreception@tdlpathology.com. Hundreds of videos, recipes and articles are prioritized for you based on your genotype and available to you at any time. Dallas, TX 75287 (713) 668-0094, Equilibrium Southlake STI Screening from Hologic ThinPrep Vials, Sample requirements and request procedures, Non-invasive prenatal testing (Harmony® test), Tropical and travel related immunology tests, 1p36 Deletion Syndrome – karyotype + FISH, 21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia) – 8 mutations screened, 22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days), 22q11 & 10p14 deletion (Di George Syndrome) – BOBs only, Achromatopsia NGS Panel – full sequencing across 7 genes, Aicardi-Goutières Syndrome NGS Panel – full sequencing across 6 genes, Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes, 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, 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), 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 30 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 31 genes, Apert Syndrome – 2 common FGFR2 mutations, 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, 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, Bardet-Biedl Syndrome NGS Panel – full sequencing across 24 genes, Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full sequencing across 13 genes, 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, Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications, Breast Cancer Ashkenazi Screen – 3 common mutations, Breast Cancer NGS Panel – full sequencing across 14 genes + deletions/duplications, Brugada Syndrome/Long-QT NGS Panel – full sequencing across 34 genes, 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, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) NGS Panel – full sequencing across 9 genes + deletions/duplications, Cerebellar Hypoplasia NGS Panel – full sequencing across 8 genes, Charcot-Marie-Tooth Syndrome NGS Panel – full sequencing across 59 genes, Charcot-Marie-Tooth Type 1A – PMP22 duplications, 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 (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 (Product of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days), Chromosome Analysis (Products of Conception), Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY, Cockayne Syndrome NGS Panel – full sequencing ERCC6 + ERCC8, 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 Adrenal Hyperplasia (21-Hydroxylase Deficiency) – 8 mutations + deletions/duplications, Congenital Central Hypoventilation Syndrome (CCHS) – PHOX2B polyalanine repeat analysis, Congenital Central Hypoventilation Syndrome (CCHS)– full sequencing PHO X2B gene, Congenital Disorders of Glycosylation NGS Panel – full sequencing across 45 genes + deletions/duplications + mitochondrial DNA, 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), 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, 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), Doyne Honeycomb Retinal Dystrophy – EFEMP1 screening, Duchenne Muscular Dystrophy – deletions/duplications only, Duchenne Muscular Dystrophy – full sequencing DMD1 gene, 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 VII Deficiency – F7 Gene Variant Analysis (Known 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, Fluoropyrimidine Toxicity screening – 5 common mutations, 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, 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, Harmony® Prenatal Test (Non-Invasive Prenatal Testing) – common aneuploidy screening from maternal blood plus 22q11.2 del, 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/B/C/DRB1/3/4/5/DQB1 (Class I &II), HLA Tissue Typing B*51 (Behcet’s Disease), HLA Tissue Typing B*57:01 high resolution, HLA Tissue Typing Coeliac Disease – DQ2/DQ8, 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, Hypertriglyceridemia NGS Panel – full sequencing across 47 genes, 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, JAK 2 – exon 12 sequencing (rare mutations) –, Jervell and Lange-Nielsen Syndrome – full sequencing KCNE1 + KCNQ1 genes, Joubert/Meckel-Gruber Syndrome NGS Panel – full sequencing across 24 genes, Kallmann Syndrome NGS Panel – full sequencing across 19 genes, Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion, Kenny-Caffey (Sanjad-Sakati) Syndrome – common 12bp TBCE gene deletion, 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, Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days), 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 26 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, Marfan Syndrome – FBN1 sequencing + deletions/duplications, Marfan Syndrome/Loeys-Dietz Syndrome/Aortopathy NGS Panel – full sequencing across 26 genes, Maturity-Onset Diabetes of the Young (MODY) NGS Panel – full sequencing across 13 genes, Meckel-Gruber/Joubert Syndrome NGS Panel – full sequencing across 24 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 78 genes, Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days), Mitochondrial genome – full mitochondrial DNA sequencing + deletions, Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full sequencing across 43 genes, 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, Muscular Atrophy NGS Panel – full sequencing across 17 genes, Myotonic Dystrophy Type 1 – DMPK repeat PCR, Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR, 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 13 genes, Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood, Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood plus 22q11.2 del, Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only, Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full sequencing across 20 genes, Norrie Disease – NDP gene sequencing + deletions/ duplications, 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 COL1A1 + COL1A2 + CRTAP + P3H1 genes, Ovarian Cancer NGS Panel – full sequencing across 16 genes + deletions/duplications, p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA, 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 6 genes, Pontocerebellar Hypoplasia NGS Panel – full sequencing across 9 genes, Prader-Willi Syndrome (Primary Screen) – methylation PCR, Prenatal Diagnosis for haemoglobinopathies, Primary Ciliary Dyskinesia (PCD) NGS Panel – full sequencing of 38 genes, Primary Hyperoxaluria Panel – full sequencing across 3 genes + CNV, Product of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days), Product 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, 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, Sanjad-Sakati (Kenny-Caffey) Syndrome – common 12bp TBCE gene deletion, Sarcoma NGS Panel – full sequencing across 26 genes + deletions/duplications, Short Stature – SHOX mutation screening + deletions/duplications, Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing, 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), 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, Spinocerebellar Ataxia NGS Panel – full sequencing across 4 genes, Stargardt/Macular Dystrophy NGS Panel – full sequencing across 13 genes, Stickler Syndrome NGS Panel – full sequencing across 6 genes, Systemic mastocystosis – C-Kit common mutation (KIT D816V), T cell clonality assay (TCR beta and TCR gamma), 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), Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY, Zellweger Syndrome NGS Panel – full sequencing across 12 genes, Zygosity testing – comparative DNA profile.