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Procedure Name CPT Codes Mckesson Z-Code Achondroplasia 6161 South Yale Avenue, Tulsa, OK, 74136 | 918-502-1720 Preferred Client Price List v. 1/1/2019 McKesson Procedure Name CPT codes Z-code Achondroplasia {FGFR 3} 81401 Albright Hereditary Osteodystrophy {GNAS1} 81479 Amyotrophic Lateral Sclerosis {SOD1} 81404 Androgen Insensitivity Syndrome {AR} 81173 Androgen Insensitivity Syndrome {AR}; Familial variant 81174 Angelman Syndrome {UBE3A - Methylation}/ PWS 81331 Apert Syndrome - FGFR2 exon 8 81404 ZB7K1 Blau Syndrome - NOD2/CARD15 Complete Gene Analysis 81479 BRAF codon 600 81210 Hereditary Breast and Gynecological Cancer Panel (25 genes) 81432, 81433 BRCA1/2 Gene Sequence w/ Del/Dup Analysis 81162 BRCA1 gene, familial known variant 81215 BRCA2 gene, familial known variant 81217 Hereditary Colon Cancer Panel (18 genes) 81435, 81436 81432, 81433, Hereditary Cancer Comprehensive Panel (33 genes) 81435, 81436 Congenital Adrenal Hyperplasia {CAH} 81405 Connexin 26 {CX26} 81252 ZB7LH Connexin 30 {CX30} 81254 ZB7JV 81400, 81401, Craniodysmorphology Screen {FGFR 1,2 & 3} 81404 Crohn's Disease {NOD2 - Markers} 81401 Crouzon Syndrome with Acanthosis Nigricans 81403 Cystic Fibrosis - DNA Probe 81220 Cystic Fibrosis, known familial variant 81221 Epidermal Growth Factor Receptor {EGFR - Mutation Analysis} 81235 FGFR 2 81479 Factor V Leiden Mutation 81241 Fragile X Syndrome {FRAX1} 81243 Fragile X syndrome by Southern Blot (an add-on charge) 81243 Friederich's Ataxia {FRDA} 81284 Frontotemporal Dementia - Full Gene (MAPT) 81406 Frontotemporal Dementia - Familial Variant (MAPT) 81403 Hereditary Dentatorubral - Pallidolysian Atrophy {DRPLA} 81177 Huntington's Disease {HD} 81271 ZB7JW Hypochondroplasia {FGFR 3} 81404 JAK2 Mutation for Myeloproliferative Disorders 81270 KRAS codons 12 and 13 81275 Li-Fraumeni Syndrome {P53} 81405 Li Fraumeni - known variant 81403 Marfan Syndrome - known mutation 81403 Marfan Syndrome Type 1 {TGFBR1} 81405 Marfan Syndrome Type 2 {TGFBR2} 81405 Marfan Syndrome {Fib1 - unknown mutation - DNA} 81408 Maternal Cell Contamination 81265 McCune - Albright Syndrome {targeted GNAS1} 81479 Page 1 of 3 6161 South Yale Avenue, Tulsa, OK, 74136 | 918-502-1720 Preferred Client Price List v. 1/1/2019 Methylenetetrahydrofolate Reductase Gene 81291 Mitochondrial Mutation A1555G {mito 12S DNA} 81401 Mitochondrial Serine tRNA Mutations 81403 Myotonic Dystrophy by PCR reflexed to Southern 81234 ZB7JY Myotonic dystrophy - Southern blot (an add-on charge) 81239 NOD2/CARD15 Complete Gene Analysis 81479 ZB75YN Nonsyndromic Craniosynostosis 81400 PGRN 81406 Pendred Syndrome {SLC26A4} 81406 Prader-Willi Syndrome {SNRPN - Methylation}/ Angelman 81331 Prothrombin 20210 Mutation 81240 Saethre - Chotzen Syndrome {TWIST} 81404 Spinal Muscular Atrophy, Types 1,2 & 3 {SMN1} 81400 ZB7JX Spinocerebellar Ataxia, Type 1 {SCA1} 81178 ZB5YK Spinocerebellar Ataxia, Type 2 {SCA2} 81179 Spinocerebellar Ataxia, Type 3 {SCA3} 81180 Spinocerebellar Ataxia, Type 6 {SCA6} 81184 Spinocerebellar Ataxia, Type 7 {SCA7} 81181 Waardenburg 1 {PAX3} 81479 Waardenburg 2 {MITF} 81479 Sequencing - Known Familial Variant by gene AR 81174 CYP21A2 (qty = 2) 81403 FGFR2 81403 GJB2 81253 GNAS1 81479 MAPT 81403 MITF 81479 NOD2 81479 PAX3 81479 PGRN 81403 SLC26A4 (qty = 2) 81403 SOD1 81403 TGFBR1 81403 TGFBR2 81403 TWIST 81403 Chromosomal MicroArray, Postnatal TAT = 2 weeks 81229 Page 2 of 3 6161 South Yale Avenue, Tulsa, OK, 74136 | 918-502-1720 Preferred Client Price List v. 1/1/2019 Sample Min = 2ml EDTA and 2ml NaHep Newborn Min = 1ml EDTA and 1ml NaHep Total Discounted Panels Connexin Hearing Loss Panel (GJB2, GJ6) 81252, 81254 ZB7LI Craniodysmorphology Panel (FGFR1,2,3,TWIST) 81400, 81401 81404 x 2 Dwarfism Panel (FGFR3 - ACH / HCH) 81401, 81404 Marfan Syndrome - TGFBR Panel 81405 x 2 81405 Neurological Panel (HD,DRPLA,FRDA,SCA1,2,3,6,7) 81271, 81284 81177, 81178 81179, 81180 81181, 81184 Newborn Hypotonia Panel - (DM,SMA,PWS) 81400, 81401 81331 ZB7JZ Nonsyndromic Hearing Loss Panel(GJB2,GJB6,mt1555) 81252, 81254 81401 Spinocerebellar ataxia Panel (SCA1,2,3,6,7) 81178, 81179 81180, 81181 81184 ZB5YL (Prices may be subject to change) Page 3 of 3.
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    Review J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.2008.158261 on 22 February 2010. Downloaded from The myotonic dystrophies: diagnosis and management Chris Turner,1 David Hilton-Jones2 1Department of Neurology, ABSTRACT asymptomatic relatives as well as prenatal and National Hospital for Neurology There are currently two clinically and molecularly defined preimplantation diagnosis can also be performed.7 and Neurosurgery, London, UK 2Department of Clinical forms of myotonic dystrophy: (1) myotonic dystrophy Neurology, The Radcliffe type 1 (DM1), also known as ‘Steinert’s disease’; and Anticipation Infirmary, Oxford, UK (2) myotonic dystrophy type 2 (DM2), also known as DMPK alleles greater than 37 CTG repeats in length proximal myotonic myopathy. DM1 and DM2 are are unstable and may expand in length during meiosis Correspondence to progressive multisystem genetic disorders with several and mitosis. Children of a parent with DM1 may Dr C Turner, Department of Neurology, National Hospital for clinical and genetic features in common. DM1 is the most inherit repeat lengths considerably longer than those Neurology and Neurosurgery, common form of adult onset muscular dystrophy whereas present in the transmitting parent. This phenomenon Queen Square, London WC1N DM2 tends to have a milder phenotype with later onset of causes ‘anticipation’, which is the occurrence of 3BG, UK; symptoms and is rarer than DM1. This review will focus increasing disease severity and decreasing age of onset [email protected] on the clinical features, diagnosis and management of in successive generations. The presence of a larger Received 1 December 2008 DM1 and DM2 and will briefly discuss the recent repeat leads to earlier onset and more severe disease Accepted 18 December 2008 advances in the understanding of the molecular and causes the more severe phenotype of ‘congenital’ pathogenesis of these diseases with particular reference DM1 (figure 2).8 9 A child with congenital DM 1 to new treatments using gene therapy.
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