DISEASE / DISORDER Price Routine TAT (Calendar Days) Achondroplasia + Hypochondroplasia FGFR3 Common mutations in FGFR3

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1 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 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

2 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 Ovarian cancer Charcot-Marie-Tooth disease type 1A Dosage only 515 RAD51C, RAD51D PMP22 Next-generation sequencing Duplication by MLPA NGS service Full PMP22 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 180 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 CFTR 50 of the most common mutations Newborn from blood spots CFTR 4 most common mutations in the UK

3 Di George syndrome MLPA for 22q11 deletions Doyne honeycomb retinal dystrophy EFEMP1 (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) 180 or MLPA (requires positive control) Predictive testing Fragile X syndrome (FRAXA or FRAXE) FRAXA PCR only FRAXE PCR only FMR1 AFF2 or MLPA (requires positive control) Fluorescent long-template PCR Fluorescent long-template PCR FRAXA Southern blot FRAXE Southern blot Frontal temporal dementia (FTD) FMR1 AFF2 See Amyotrophic lateral sclerosis Southern blot Southern blot 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

4 Haematological malignancies (contd) Chronic myeloid leukaemia (CML) BCR-ABL1 kinase domain mutations 305 BCR-ABL1 fusion RNA/cDNA prep + of kinase domain Haematooncology Atypical CML, Chronic neutrophilic leukaemia 110 SETBP1, CSF3R (specific exons) Leukaemia translocations (AML, ALL) Multiple RT-PCR for 29 translocation mutations Myeloproliferative neoplasia (MPN) CALR (exon 9) and MPL (codons 505, 515) JAK2 V617F JAK2 exon for all 4 tests CALR, MPL JAK2 JAK2 Hypereosinophilic syndrome FIP1L1-PDGFRA 175 FIP1L1-PDGFRA fusion Multiplex genomic DNA PCR, nested RT-PCR Systemic mastocytosis (SM) KIT D816V Extended 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 PMP22 and MLPA

5 Huntington disease (HD) PCR only HTT 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 + MLPA X-linked Léri Weill dyschondrosteosis (LWD) Dosage only 505 ANOS1 (KAL1) SHOX + MLPA 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 BRAF Marfan syndrome Full (not including MLPA) or 19-gene panel See separate NGS service list for details of genes included Haematooncology NGS service

6 Marfan syndrome (contd) MLPA (on request only) 200 FBN1, TGFBR1, TGFBR2 Microphthalmia See Anophthalmia MLPA Multiple gene Mental retardation, autosomal dominant 31 (OMIM#616158) 180 PURA 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 CNBP (PROMM) Fluorescent PCR/TP-PCR Neurofibromatosis (NF1) and 675 NF1, SPRED1 Next-generation sequencing + MLPA NGS service Neurofibromatosis-Like Syndrome Noonan syndrome 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 205 Methylation-sensitive MLPA

7 Prenatal testing of known mutations QF-PCR for maternal cell contamination testing MLPA Progressive myoclonic epilepsy of Unverricht and Lundborg (EPM1) Dodecamer repeat expansion CSTB MLPA + QF-PCR for maternal cell contamination testing DNA deamination + PCR Point mutation Pseudohypoparathyroidism type 1b (PHP1b) GNAS abnormalities 205 CSTB 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 750 EP300 See Silver-Russell syndrome Sequencing + MLPA

8 Sequencing of known mutations Confirmations Sequencing of index case only Family or predictive testing 180 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 QF-PCR Specialised testing Short stature Dosage only SHOX MLPA Point mutation Silver-Russell syndrome Chromosome 11 abnormalities SHOX ICR1 only MS-MLPA /MS-PCR UPD(7) follow-up by MLPA 205 Methylation-specific MLPA Smith-Magenis syndrome 750 RAI1 Full mutation + MLPA Sorsby fundus dystrophy 180 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) See Marfan syndrome STS Temple syndrome Methylation abnormalities 205 DLK1/GTL2 Methylation-sensitive MLPA

9 Temple syndrome (contd) Maternal UPD(14) follow-up, see UPD studies Thanataphoric dwarfism Type 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 Follow-up test (e.g. of imprinting abnormality) Validation or confirmation of single mutation Existing test (sequence mutations) Microsatellite (parental samples required) Microsatellite (parental samples required) 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

10 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.

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