Genetic Tests London

GENETIC TESTS

The following Genetic Tests can be requested after a consultation.

Test	Turnaround
22q11 deletion (Di George syndrome) karyotype/FISH	10 days
Achondroplasia	10 days
Acoustic Neuroma (NF2)	Contact lab
Adrenoleukodystrophy (also see 17 hydroxyprogesterone)	Contact lab
Alpha 1 antitrypsin genotype (PIM, PIS, PI*Z)	5 days
Alpha fetoprotein on Amniotic fluid	5-10 days
Alpha thalassaemia by PCR	10-15 days
Alpha thalassaemia by Sequencing	4-6 weeks
Alzheimer (presenilin 1) Early onset dementia
Amnio PCR only (Trisomy analysis QF-PCR)	1-2 days
Amniocentesis culture (karyotype)	10 days
Androgen insensitivity	6 weeks
Angelman syndrome – Methylation PCR	5 days
Angelman syndrome – Sequencing UBE3A	4-6 weeks
Angelman syndrome – karyotype/FISH	10 days
Angelman syndrome – UPD 15 (parents and child)	5 days
Apo E genotyping by PCR (E2, E3, E4)	5 days
Ashkenazi Jewish Screen (see profiles)	5 days
Azoospermia (Y karyotype deletion, CF and 5T)	10 days
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
BCR/ABL	10 days
Becker Muscular Dystrophy (Common duplications & deletions by MLPA)	2-3 weeks
Beckwith-Wiedemann Syndrome	6-8 weeks
Beta Globin Sequencing	3-4 weeks
Bloom Syndrome	5 days
Breast Cancer (BRCA1, BRCA2)	4 weeks
CADASIL	4-8 weeks
Canavan disease (Jewish mutation)	5 days
Charcot Marie Tooth Syndrome	8 weeks
CHARGE syndrome	8 months
Chromosome Analysis (Amniocentesis) by culture	10 days
Chromosome Analysis (Amniocentesis) by PCR and culture	2 days, 10 days
Chromosome Analysis (Blood)	5-10 days
Chromosome Analysis (Bone marrow)	4 weeks
Chromosome Analysis (Chorionic Villus) culture	10 days
Chromosome Analysis (Chorionic Villus) PCR & culture	2 days, 10 days
Chromosome Analysis (Products of conception)	3-4 weeks
Chromosome Analysis (Slide for opinion)	5 days
Chromosome Analysis (Solid tissue)	3-4 weeks
Chromosome Y deletion (AZFa, AZFb, AZFc and SRY gene)	5 days
Coeliac Disease (HLA markers)	10 days
Chronic Granulomatous Disease Primary Screen X-linked CYBB/NCF1)	6 weeks
Congenital absence of vas deferens (karyotype CF and polyT(5T) and Y deletions)	10 days
Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) Whole Gene	6 weeks
Connexin 26 35delG Mutation	3-4 weeks
Cowden syndrome	6-8 weeks
Cri du chat syndrome karyotype/FISH	10 days
CVS PCR and Culture	2 days, 10 days
CYP450 (2D6,2C19)	7-10 days
Cystic Fibrosis (32 Mutations)	5 days
Cystic Fibrosis (7 Ashkenazi Jewish mutations)	5 days
Deafness (Connexin 26) full sequence	2-3 weeks
Deafness – Aminoglycoside induced, mitochondrial /A155G	3-4 weeks
Deafness – Pendred syndrome	4-5 weeks
Di George syndrome (22q deletion) karyotype/FISH	10 days
DNA fragmentation of semen	14 days
DNA Storage	Contact lab
DRPLA
Duchenne Muscular Dystrophy – Male/Female, common deletions and duplications by MLPA	2-3 weeks
Duchenne Muscular Dystrophy – Mutation analysis	4-5 weeks
DVT/Pre-travel screen	5 days
Ectrodactyly-ED-Clefting (TP63, p63)	4 weeks
Emery Dreyfuss Myotonic Dystrophy (EMERIN)	Contact lab
Erythrokeratoderma variabilis (Connexin)	3-4 weeks
Fabry Disease	4-6 weeks
Factor II Prothrombin mutation (G20201A)	3 days
Factor V Leiden (G1691A)	3 days
Factor VIII (Detection in relative)	5 days
Factor VIII (Detection of mutation in new patient)	4-6 weeks
Familial Adenomatous Polyposis
Familial Cutaneous Malignant Melanoma CDKN2A, p16	8 weeks
Familial Dysautonomia (Reilly Day syndrome) – Ashkenazi only	5 days
Familial Hibernian Fever (TNFRSF1A)	3 weeks
Familial Hypercholesterolaemia (common mutations and deletions)	10 days
Familial Hypercholesterolaemia (unknown mutations)	3 months
Familial Mediterranean Fever (MEFV) – Unknown mutation	3 weeks
Familial Mediterranean Fever (MEFV) – Known mutation	10 days
Fanconi Anaemia (Jewish mutation)	5 days
Fragile X syndrome by PCR Screening	10 days
Fragile X syndrome by Southern blot	8 weeks
Friedreich Ataxia	4-6 weeks
Gaucher Disease	5 days
Genetic reproductive profile (Male) see profiles	10 days
Gorlin syndrome (PTCH)	8 weeks
Haemochromatosis (HFE gene: C282Y, H63D)	3 days
Haemophilia A Factor VIII assay	5 days
Haemophilia B – Full mutation screen (Factor IX)	3-4 weeks
Hay-Wells (TP63, p63)	4 weeks
Herceptin HER2/NEU	10 days
Hereditary angioedema (C1 NH) – unknown mutation	3-4 weeks
Hereditary angioedema (C1 NH) – known mutation	10 days
Hereditary Liability to Pressure Palsy (NHPP)	8 weeks
Hereditary non-polyposis colonic cancer – full mutation screen
HFE gene (Haemochromatosis: C282Y, H63D mutations)	3 days
HLA Tissue Typing A	10 days
HLA Tissue Typing A+B	10 days
HLA Tissue Typing A+B+Cw (Class I)	10 days
HLA Tissue Typing A/B/Cw/DRB1/DQB1(Class I & II)	10 days
HLA Tissue Typing A/B/DRB1/DQB1	10 days
HLA Tissue Typing B	10 days
HLA Tissue Typing B27	3 days
HLA Tissue Typing B51 only	10 days
HLA Tissue Typing B5701	2-6 weeks
HLA Tissue Typing Cw	10 days
HLA Tissue Typing Coeliac disease (DQ2/DQ8)	10 days
HLA Tissue Typing DRB1*	10 days
HLA Tissue Typing DRB1/DQB1 (Class II)	10 days
HLA Tissue Typing Narcolepsy DRB115/DQB106	10 days
Holoprosencephaly Panel – SHH, TGIF, ZIC2, SIX3	6-8 weeks
Huntington Disease	2-4 weeks
Hyper-lgD syndrome (MVK)	4 weeks
Incontinentia Pigmenti	6-8 weeks
Iron overload Profile (inc. haemochromatosis)	3 days
Jak2	2-3 weeks
Jervell, Lange-Nielsen Syn (KCNQ1 and KCNE1)	6-8 weeks
Kallmann syndrome by karyotype/FISH	10 days
Karyotype (see Chromosome Analysis)
Kennedy disease	4 weeks
Leber’s optic atrophy – LHON	8 weeks
Long QT Syndrome Panel – KCNO1, HERG, KCNE1, SCN5A, KCNE2	6-8 weeks
Male infertility profile 2	10 days
Marfan Syndrome (FBN1;fibrillin)	4-8 weeks
MCAD (Medium Chain AcylCoA Dehydrogenase) deficiency	2-3 weeks
Microdeletion and duplication panel (MLPA)	5 days
Miller-Dieker syndrome karyotype/FISH	10 days
Mitochondrial myopathy	8 weeks
MODY 2 (Glucokinase)	8 weeks
MTHFR by PCR (C677T mutation)	3 days
Multiple Epiphyseal Dysplasia (COMP)	4 weeks
Multiple endocrine nepoplasia type 2B (RET)	3-4 weeks
Myotonic dystrophy	4-6 weeks
Narcolepsy (HLA DRB115/DQB106)	10 days
Neurofibromatosis type 1	7 months
Neurofibromatosis type 2A	7 months
Noonan Syndrome (PTPNII whole gene)	4-6 weeks
Noonan Syndrome (SOS1)	8 weeks
Noonan Syndrome (KRAS or RAF1)	8 weeks
Oculopharyngeal muscular dystrophy (PABPN1)	4 weeks
Paternity testing (Post-natal and pre-natal) Sample required from each person being tested (3 people)	5 days
Periodic Fever syndromes – MEFV/TNFRSF1A/MVK/CIAS1	8+ weeks
Peutz-Jeghers syndrome (STK11)	6-8 weeks
Poly T (5T,7T, 9T)	5 days
Prader-Willi syndrome – Methylation-PCR	5 days
Prader-Willi syndrome – Karyotype/FISH	10 days
Prader-Willi – UPD15 (parents and child)	5 days
Pseudoachondroplasia	4 weeks
QF-PCR Trisomy Analysis	1-2 days
Recurrent Miscarriage Profile (female)	10 days
Retardation profile (see profiles)	10 days
Rett syndrome – MECP2 gene	4-6 weeks
Reilly Day syndrome (Familial Dysautonomia)	5 days
Short Stature SHOX	Contact lab
Smith-Magenis syndrome karyotype/FISH	10 days
Sotos Syndrome (Cerebral gigantism NSD1)	4-6 weeks
Spastic Parplegia (Familial) 3 SPG3A	Contact lab
Spastic Paraplegia (Hereditary) SPG4	Contact lab
Sperm DNA Fragmentation	14 days
Sperm DNA Fragementation and Aneupliody	14 days
Spinal muscular atrophy Type I and II (MLPA)	10 days
Spinocerebellar Ataxia Screen	Contact lab
SRY gene by PCR	2 days
Tay Sachs Screen (3 Jewish mutations)	5 days
Telomeric screen (MLPA)	10 days
Thrombotic risk/Miscarriage profile (see profiles)	3 days
Torsion Dystonia (DYT1 gene)
Trisomy Analysis (Amniotic Fluid) PCR only	1-2 days
Uni parental disomy (UPD) parents and child	5 days
Vohwinkel syndrome (GJB2; connexin 26)	6-8 weeks
Von Hippel-Lindau syndrome
Waardenburg type 1 – PAX3	Contact lab
Werdnig-Hoffman disease (spinal muscular atrophy Type I)	10 days
Williams syndrome karyotype/FISH	10 days
Wilms tumour – WT1/DDS	8+ weeks
Wolf-Hirschhorn syndrome karyotype/FISH	10 days
X-linked hypohidrotic ED (EDA1)	6-8 weeks
X-linked hydrocephalus/MASA/ (L1CAM)	6-8 weeks
X-linked Mental Handicap profile	3 weeks
X-linked Mental Retardation profile	3 weeks
Y chromosome microdeletion (AZFa, AZFb, AZFc, SRY)	5 days
Zygosity testing (comparative DNA profile)	5 days