DISEASE / DISORDER Price Routine TAT (Calendar Days) Achondroplasia + Hypochondroplasia 205 FGFR3 Common mutations in FGFR3 Gene(s) or locus Description of test Category (1138 G>A/C and 1620C>A/G) Adrenal hypoplasia, congenital X-linked 605 NR0B1 (DAX1) Full mutation + MLPA Alpha 1 - antitrypsin deficiency 205 SERPINA1 2 common mutations (S& Z) Amyloidosis (Finnish type) GSN Specific mutation Amyotrophic lateral sclerosis (ALS) / Frontal temporal dementia (FTD) Angelman syndrome Chromosome 15 abnormalities 205 C9orf72 Hexanucleotide repeat expansion : PCR + RP-PCR. 205 MS-PCR / MS-MLPA UPD(15) follow-up, see UPD studies Aniridia 605 PAX6 Sanger sequencing + MLPA Anophthalmia + Microphthalmia 305- SOX2, BMP4, Full mutation by Sanger Multiple gene 610/gene OTX2, PITX2, sequencing (+ MLPA for SOX2 only) TFAP2A Aortopathy panel See Marfan syndrome Beckwith-Wiedemann syndrome Chromosome 11 abnormalities 305 ICR1 and ICR2 MS-PCR / MS-MLPA UPD(11) follow-up, see UPD studies BPES (blepharophimosis, ptosis, and epicanthus inversus syndrome) FOXL2 Full mutation + MLPA
Breast/ovarian cancer Full s 545 BRCA1, BRCA2 Next-generation sequencing + MLPA NGS service Ashkenazi Jewish founder mutations: 305 BRCA1, BRCA2 3 specific mutations by highthroughput Sanger sequencing Ovarian cancer Charcot-Marie-Tooth disease type 1A Dosage only 515 RAD51C, RAD51D PMP22 Next-generation sequencing Duplication by MLPA NGS service Full PMP22 Sanger sequencing and MLPA Charcot-Marie-Tooth disease type 1B MPZ Full mutation + MLPA Charcot-Marie-Tooth disease, X-linked GJB1 (CX32) Full mutation + MLPA Cystic fibrosis Routine diagnostic or carrier testing CFTR Charcot-Marie-Tooth disease, other POA Further CMT genes available on request Chronic myeloid leukaemia (CML) See Haematological malignancies Chronic lymphoblastic leukaemia (CLL) See Haematological malignancies Cowden syndrome PTEN Mutation ing by nextgeneration sequencing + MLPA 50 of the most common mutations Single or multiple gene NGS service Urgent carrier testing 14 CFTR 50 of the most common mutations Newborn from blood spots 110 4 CFTR 4 most common mutations in the UK
Di George syndrome MLPA for 22q11 deletions Disorders of sexual development (DSD) 750 112 Gender assignment See www.ukgtn.nhs.uk for details of NGS service 13-gene panel genes included on these panels 750 750 112 112 Genital anomalies and suspected adrenal problems 12-gene panel Gonadal dysgenesis with gonadal failure 12-gene panel 900 112 DSD -gene panel Doyne honeycomb retinal dystrophy EFEMP1 Sanger sequencing (One common mutation) Duchenne/Becker muscular dystrophy 205 DMD MLPA Factor V Leiden & Prothrombin mutations 205 F5, F2 Familial ing Family testing (carrier, parental, segregation) Sanger sequencing or MLPA (requires positive control) Predictive testing Fragile X syndrome (FRAXA or FRAXE) FRAXA PCR only FRAXE PCR only FRAXA Southern blot FRAXE Southern blot 14 FMR1 AFF2 FMR1 AFF2 Sanger sequencing or MLPA (requires positive control) Fluorescent long-template PCR Fluorescent long-template PCR Southern blot Southern blot
Frontal temporal dementia (FTD) See Amyotrophic lateral sclerosis Glaucoma 305 MYOC Mutation ing Haematological malignancies AML core binding factor 0 N/A KIT Screening of mutation hotspots by Haematooncology Chronic lymphocytic leukaemia (CLL) 0 N/A TP53 Chronic myeloid leukaemia (CML) Variant BCR-ABL1 translocations 305 BCR-ABL1 fusion RNA/cDNA prep + fragment Chronic myeloid leukaemia (CML) BCR-ABL1 kinase domain mutations 305 BCR-ABL1 fusion RNA/cDNA prep + Sanger sequencing of kinase domain Atypical CML, Chronic neutrophilic leukaemia 110 SETBP1, CSF3R Sanger sequencing (specific exons) Leukaemia translocations (AML, ALL) 305 14 Multiple RT-PCR for 29 translocation mutations Myeloid NGS panel 300 Up to 54 genes (full s or hotspots) See Molecular leukaemia research tests on Oncology page of website Myeloproliferative neoplasia (MPN) CALR (exon 9) and MPL (codons 505, 515) JAK2 V617F JAK2 exon 12 110 for all 4 tests CALR, MPL JAK2 JAK2
Haematological malignancies (contd) Hypereosinophilic syndrome FIP1L1-PDGFRA 175 FIP1L1-PDGFRA fusion Multiplex genomic DNA PCR, nested RT-PCR Systemic mastocytosis (SM) KIT D816V Extended 110 0 N/A KIT KIT Droplet digital PCR Screening of mutation hotspots by Haemochromatosis 205 HFE 2 common mutations Hereditary neuropathy with liability to pressure palsies (HNPP) Dosage PMP22 Deletion by MLPA Full Hereditary non-polyposis colon cancer (HNPCC) See Lynch syndrome Huntington disease (HD) PCR only PMP22 HTT Sanger sequencing and MLPA Fluorescent PCR PCR + TP-PCR Infertility Kagami-Ogata syndrome Methylation abnormalities 205 HTT Fluorescent PCR + TP-PCR See Cystic fibrosis and Y microdeletion 205 DLK1/GTL2 Methylation-sensitive MLPA Paternal UPD(14) follow-up, see UPD studies Kallman syndrome Autosomal 505 FGFR1 Sanger sequencing + MLPA X-linked 505 ANOS1 (KAL1) Sanger sequencing + MLPA
Léri Weill dyschondrosteosis (LWD) Dosage only SHOX MLPA only Full 405 SHOX Full mutation including MLPA Linkage (up to 4 patients) 505 Microsatellite Specialised testing Lynch syndrome (HNPCC) Full 500 MLH, MSH2, MSH6 Next-generation sequencing + MLPA NGS service Microsatellite instability 275 Analysis of 5 microsatellite loci on paired blood DNA + tumour DNA Haematooncology BRAF V600E status Marfan syndrome Full (not including MLPA) 750-950 BRAF 6-or 19-gene panel Sanger sequencing See separate NGS service list for details of genes included Haematooncology NGS service MLPA (on request only) Microphthalmia 200 See Anophthalmia FBN1, TGFBR1, TGFBR2 MLPA Multiple gene Mental retardation, autosomal dominant 31 (OMIM#616158) PURA Sanger sequencing Mowat-Wilson syndrome 750 ZEB2 Full mutation + MLPA Multiple exostoses/multiple osteochondromas 670 EXT1, EXT2 Next-generation sequencing + MLPA NGS service MUTYH-associated polyposis 205 MUTYH for two common mutations Myeloproliferative neoplasia (MPN) See Haematological malignancies
Myotonic dystrophy type 1 PCR only 205 DMPK Fluorescent PCR/TP-PCR Southern blot 500 DMPK Two Southern blots Myotonic dystrophy type 2 205 CNBP (PROMM) Fluorescent PCR/TP-PCR Neurofibromatosis (NF1) and 675 NF1, SPRED1 Next-generation sequencing + MLPA NGS service Neurofibromatosis-Like Syndrome Noonan syndrome 680 5-gene panel See NGS service list NGS service Oculopharyngeal muscular dystrophy (OPMD) Triplet repeat PABPN1 Fluorescent PCR Test for single point mutation c.35g>c Prader-Willi syndrome Chromosome 15 abnormalities UPD(15) follow-up, see UPD studies PABPN1 Sanger sequencing 205 Methylation-sensitive MLPA Prenatal testing of known mutations Sanger sequencing - 0 3 Sanger sequencing + QF-PCR for maternal cell contamination testing MLPA Progressive myoclonic epilepsy of Unverricht and Lundborg (EPM1) Dodecamer repeat expansion - 0 205 3 CSTB MLPA + QF-PCR for maternal cell contamination testing DNA deamination + PCR Point mutation 205 CSTB Sanger sequencing
Pseudohypoparathyroidism type 1b (PHP1b) GNAS abnormalities 205 GNAS MS-MLPA UPD(20) follow-up, see UPD studies Rett syndrome 350 MECP2 Full mutation + MLPA Rett syndrome (congenital variant) RNA studies (investigating the effect of sequence variants on splicing) Rubinstein-Taybi syndrome CREBBP 225 FOXG1 Full mutation + MLPA 520 Analysis of DNA variants for splicing abnormalities 750 CREBBP Sequencing + MLPA Specialised testing EP300 Russell-Silver syndrome Sequencing of known mutations Confirmations 750 EP300 See Silver-Russell syndrome Sequencing + MLPA Sequencing of index case only Family or predictive testing or 14 Sequencing of index case and control Setting up new test 300 N/A Primer design and optimisation Sequencing of index case only Sexing of CV samples for molecular 3 QF-PCR Specialised testing Short stature Dosage only SHOX MLPA Point mutation 305 SHOX Sanger sequencing Silver-Russell syndrome Chromosome 11 abnormalities 305 ICR1 only MS-MLPA /MS-PCR
Silver-Russell syndrome (contd) UPD(7) follow-up by MLPA 205 Methylation-specific MLPA Smith-Magenis syndrome 750 RAI1 Full mutation + MLPA Sorsby fundus dystrophy TIMP3 Sequencing of mutation hotpsots Spinal muscular atrophy, SMA (5q13-linked) SMN1 MLPA dosage Steroid sulphatase deficiency (X-linked ichthyosis) Dosage only for common microdeletion STS MLPA dosage Point ing TAAD (Thoracic Aortic Aneurism Dissection) Temple syndrome Methylation abnormalities STS Sanger sequencing See Marfan syndrome 205 DLK1/GTL2 Methylation-sensitive MLPA Maternal UPD(14) follow-up, see UPD studies Thanataphoric dwarfism Type 1 FGFR3 Sequencing of mutation hotspots Type 2 FGFR3 Sequencing of mutation hotspot Transient neonatal diabetes mellitus (TNDM) 205 6q24 methylation, UPD and dosage by MLPA Tufting enteropathy EPCAM Full (sequencing only) Unverricht-Lundborg disease See Progressive myoclonic epilepsy UPD studies (any chromosome) First-line test 505 Microsatellite (parental samples required)
UPD studies (any chromosome) (contd) Follow-up test (e.g. of imprinting abnormality) 300 Microsatellite (parental samples required) Validation or confirmation of single mutation Existing test (sequence mutations) Sanger sequencing Existing test (copy number mutations) MLPA Development of new test 300 Amplicon design and Sanger sequencing Von Hippel-Lindau 360 VHL Next-generation sequencing + MLPA NGS service Witkop syndrome 405 MSX1 Full mutation X-inactivation studies (e.g. X-linked inheritance, CNV or VUS assessment) 205 Methylation by restriction enzyme digestion Specialised testing X-linked ichthyosis See Steroid sulphatase deficiency Y microdeletions (AZFa, b, and c) MLPA Note: We are happy to receive NHS referrals and referrals from private patients and from outside the UK. Prices shown are for NHS referrals; please contact the laboratory for all other referrals.