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 + MLPA Anophthalmia + Microphthalmia 4-gene panel 5-gene panel Individual gene Aortopathy panel 900 305 See Marfan syndrome SOX2, BMP4, OTX2, RAX SOX2, BMP4, OTX2, RAX, PITX2 Any one of the above Full mutation by Sanger sequencing (+ MLPA for SOX2 only) Full mutation by Sanger sequencing (+ MLPA for SOX2 only) Full mutation by Sanger sequencing (+ MLPA for SOX2 only) Multiple gene Multiple gene Page 1 of 10
Beckwith-Wiedemann syndrome Chromosome 11 abnormalities 305 ICR1 and ICR2 MS-PCR / MS-MLPA UPD(11) follow-up, see UPD studies BOFS (Brachio-ocular facial syndrome) 500 TFAP2A Full mutation by Sanger sequencing BPES (blepharophimosis, ptosis, and epicanthus FOXL2 Full mutation + MLPA inversus syndrome) Breast/ovarian cancer Full s 545 BRCA1, BRCA2 Next-generation sequencing + MLPA NGS service Ashkenazi Jewish founder mutations: Ovarian cancer Charcot-Marie-Tooth disease type 1A Dosage only Full Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, X-linked Charcot-Marie-Tooth disease, other Chronic myeloid leukaemia (CML) Chronic lymphoblastic leukaemia (CLL) 305 515 BRCA1, BRCA2 RAD51C, RAD51D PMP22 PMP22 MPZ GJB1 (CX32) POA Further CMT genes available on request See Haematological malignancies See Haematological malignancies 3 specific mutations by highthroughput Next-generation sequencing Duplication by MLPA and MLPA Full mutation + MLPA Full mutation + MLPA NGS service Single or multiple gene Page 2 of 10
Cowden syndrome Full PTEN Mutation ing by nextgeneration sequencing + MLPA NGS service PTEN promoter mutation Cystic fibrosis Routine diagnostic or carrier testing Urgent carrier testing 205 900 14 112 112 112 PTEN CFTR CFTR of promoter 50 of the most common mutations 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) 112 Gender assignment See www.ukgtn.nhs.uk for details of NGS service 13-gene panel genes included on these panels Genital anomalies and suspected adrenal problems 12-gene panel Gonadal dysgenesis with gonadal failure 12-gene panel DSD -gene panel Doyne honeycomb retinal dystrophy EFEMP1 (One common mutation) Duchenne/Becker muscular dystrophy 205 DMD MLPA Factor V Leiden & Prothrombin mutations 205 F5, F2 Page 3 of 10
Familial ing Family testing (carrier, parental, segregation) 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 Frontal temporal dementia (FTD) 14 FMR1 AFF2 FMR1 AFF2 See Amyotrophic lateral sclerosis or MLPA (requires positive control) Fluorescent long-template PCR Fluorescent long-template PCR Southern blot Southern blot Glaucoma 305 MYOC Mutation ing Haematological malignancies AML core binding factor Chronic lymphocytic leukaemia (CLL) Chronic myeloid leukaemia (CML) Variant BCR-ABL1 translocations Chronic myeloid leukaemia (CML) BCR-ABL1 kinase domain mutations Atypical CML, Chronic neutrophilic leukaemia 0 0 305 305 110 N/A N/A KIT TP53 BCR-ABL1 fusion BCR-ABL1 fusion SETBP1, CSF3R Screening of mutation hotspots by RNA/cDNA prep + fragment RNA/cDNA prep + of kinase domain (specific exons) Haematooncology Leukaemia translocations (AML, ALL) 305 14 Multiple RT-PCR for 29 translocation mutations Page 4 of 10
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 Haematological malignancies (contd) Hypereosinophilic syndrome FIP1L1-PDGFRA Systemic mastocytosis (SM) KIT D816V Extended 110 for all 4 tests 175 110 0 N/A CALR, MPL JAK2 JAK2 FIP1L1-PDGFRA fusion KIT KIT Multiplex genomic DNA PCR, nested RT-PCR Droplet digital PCR Screening of mutation hotspots by Haemochromatosis 205 HFE 2 common mutations Hereditary neuropathy with liability to pressure palsies (HNPP) Dosage Full Hereditary non-polyposis colon cancer (HNPCC) See Lynch syndrome Huntington disease (HD) PCR only PMP22 PMP22 HTT Deletion by MLPA and MLPA Fluorescent PCR PCR + TP-PCR 205 HTT Fluorescent PCR + TP-PCR Page 5 of 10
Infertility Kagami-Ogata syndrome Methylation abnormalities See Cystic fibrosis and Y microdeletion 205 DLK1/GTL2 Methylation-sensitive MLPA Paternal UPD(14) follow-up, see UPD studies Kallman syndrome Autosomal X-linked Léri Weill dyschondrosteosis (LWD) Dosage only Full 505 505 405 FGFR1 ANOS1 (KAL1) SHOX SHOX + MLPA + MLPA MLPA only Full mutation including MLPA Linkage (up to 4 patients) 505 Microsatellite Specialised testing Lynch syndrome (HNPCC) Full Microsatellite instability BRAF V600E status Marfan syndrome Full (not including MLPA) 500 275-950 or 112 MLH, MSH2, MSH6 BRAF 6-or 19-gene panel Next-generation sequencing + MLPA Analysis of 5 microsatellite loci on paired blood DNA + tumour DNA See separate NGS service list for details of genes included NGS service NGS service MLPA (on request only) Microphthalmia 200 See Anophthalmia FBN1, TGFBR1, TGFBR2 MLPA Multiple gene Page 6 of 10
Mental retardation, autosomal dominant 31 (OMIM#616158) PURA Mowat-Wilson syndrome 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 Southern blot Myotonic dystrophy type 2 Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome Noonan syndrome 14-gene panel 14-gene panel (data only) Oculopharyngeal muscular dystrophy (OPMD) Triplet repeat Test for single point mutation c.35g>c Prader-Willi syndrome Chromosome 15 abnormalities 205 500 DMPK DMPK Fluorescent PCR/TP-PCR Two Southern blots 205 CNBP (PROMM) Fluorescent PCR/TP-PCR 675 NF1, SPRED1 Next-generation sequencing + MLPA NGS service 300 112 112 See NGS service list Next-generation sequencing PABPN1 PABPN1 Fluorescent PCR 205 Methylation-sensitive MLPA NGS service UPD(15) follow-up, see UPD studies Page 7 of 10
Prenatal testing of known mutations - 0 3 + QF-PCR for maternal cell contamination testing MLPA Progressive myoclonic epilepsy of Unverricht and Lundborg (EPM1) Dodecamer repeat expansion Point mutation Pseudohypoparathyroidism type 1b (PHP1b) GNAS abnormalities UPD(20) follow-up, see UPD studies Rett syndrome Rett syndrome (congenital variant) RNA studies (investigating the effect of sequence variants on splicing) Rubinstein-Taybi syndrome CREBBP EP300 Russell-Silver syndrome - 0 205 205 3 CSTB CSTB MLPA + QF-PCR for maternal cell contamination testing DNA deamination + PCR 205 GNAS MS-MLPA 350 225 MECP2 FOXG1 Full mutation + MLPA Full mutation + MLPA 520 Analysis of DNA variants for splicing abnormalities See Silver-Russell syndrome CREBBP EP300 Sequencing + MLPA Sequencing + MLPA Specialised testing Page 8 of 10
Sequencing of known mutations Confirmations 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 Full 405 SHOX and MLPA Dosage only SHOX MLPA 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 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 Point ing TAAD (Thoracic Aortic Aneurism Dissection) See Marfan syndrome STS STS MLPA dosage Page 9 of 10
Temple syndrome Methylation abnormalities 205 DLK1/GTL2 Methylation-sensitive MLPA Maternal UPD(14) follow-up, see UPD studies Thanataphoric dwarfism Type 1 Type 2 FGFR3 Sequencing of mutation hotspot Transient neonatal diabetes mellitus (TNDM) 205 6q24 methylation, UPD and dosage by MLPA Unverricht-Lundborg disease See Progressive myoclonic epilepsy UPD studies (any chromosome) First-line test UPD studies (any chromosome) (contd) Follow-up test (e.g. of imprinting abnormality) Validation or confirmation of single mutation Existing test (sequence mutations) Existing test (copy number mutations) 505 300 FGFR3 Sequencing of mutation hotspots Microsatellite (parental samples required) Microsatellite (parental samples required) 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 Page 10 of 10