HEREDITARY PERIPHERAL NEUROPATHIES · 2018-08-02 · HEREDITARY PERIPHERAL NEUROPATHIES 1...
Transcript of HEREDITARY PERIPHERAL NEUROPATHIES · 2018-08-02 · HEREDITARY PERIPHERAL NEUROPATHIES 1...
HEREDITARY PERIPHERAL NEUROPATHIESA UNIQUE APPROACH TO IMPROVING DIAGNOSTIC YIELD & VALUE IN NEUROPATHY EVALUATION
CMTCharcot-Marie-Tooth
HMSNHereditary Motor & Sensory Neuropathy
N E U R O L O G Y A T M A Y O C L I N I C
M A Y O M E D I C A L L A B O R A T O R I E S . C O M / H P N
WHY SHOULD I ORDER A COMPREHENSIVE EVALUATION?
Hereditary peripheral neuropathies are quite varied in their presentations and even more diverse in terms of their specific genetic causes. While they can sometimes be framed in terms of the extent of weakness, sensory involvement, and/or autonomic involvements, it is difficult to discern the appropriate test for many patients. A comprehensive testing approach with next-generation sequencing has been studied to show greater value in testing, and is therefore recommended.
Furthermore, previous testing approaches required testing a huge list of etiologies for acquired possibilities, while at the same time, trying to guess what individual gene may be most likely responsible. Those methods are extremely challenging, provide a low diagnostic yield, and result in high costs.
WHAT ARE HEREDITARY PERIPHERAL NEUROPATHIES?Hereditary peripheral neuropathies are a relatively common diverse group of disorders with heterogeneous genetic causes. Due to the considerable overlap in the clinical phenotypes of various neuropathies, it is often difficult to distinguish these specific inherited disorders from sporadic, idiopathic, or acquired forms of neuropathy without genetic testing.
MAJOR CATEGORIES OF HEREDITARY PERIPHERAL NEUROPATHIES
1 Hereditary motor and sensory neuropathy (HMSN), also referred to as Charcot-Marie-Tooth (CMT)
2 Hereditary sensory and autonomic neuropathy (HSAN), or hereditary sensory neuropathy (HSN), if autonomic dysfunction is absent
3 Distal hereditary motor neuropathy (dHMN)
4 Hereditary spastic paraplegia (HSP) with neuropathy (complicated form, also referred to as HSMN type 5)
5 Syndromic or metabolic disorders with diverse organ involvements including nerve, some with available or evolving therapies
METABHereditary Metabolic
Neuropathy
HSANHereditary Sensory and Autonomic Neuropathy
HSNHereditary Sensory
Neuropathy
EXTENT OF DISEASE AND OVERLAP
HSPHereditary
Spastic Paraplegia
HMNHereditary
Motor Neuropathy
MEANINGFUL RESULTS THROUGH A MULTI-DISCIPLINARY APPROACH
At Mayo Clinic, we integrate comprehensive genetic testing with a multidisciplinary team of clinical peripheral neuropathy experts, laboratory scientists, and genetic counselors to provide the highest standard for mutation detection.
Our targeted approach allows for optimal mutation detection and interpretation though targeted capture techniques and unique reporting methods. This process eliminates the risk of false negative results compared to whole-exome sequencing and other capture techniques, which provides physicians with the confidence that disease-specific mutations have not been missed.
C U S T O M E R S E R V I C E F O R C L I N I C A L S P E C I A L I S T S / 8 5 5 - 5 1 6 - 8 4 0 4
H E R E D I T A R Y P E R I P H E R A L N E U R O P A T H I E S
WHICH TEST SHOULD I ORDER?
Peripheral Neuropathy Expanded Panel by Next-Generation Sequencing (Mayo ID: PNPAN)
HSNP HMSNP HSPP HMNP MSNP
SENSORY MOTOR üAUTONOMIC
HEREDITARY SENSORY & AUTONOMIC NEUROPATHY
HEREDITARY MOTOR & SENSORY NEUROPATHY
HEREDITARY SPASTIC PARAPLEGIA WITH NEUROPATHY
DISTAL HEREDITARY MOTOR NEUROPATHY
METABOLIC OR SYNDROMIC NEUROPATHY
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TESTING FOR THE DIAGNOSIS OF HEREDITARY NEUROPATHIES
MAYO TEST ID TEST NAME TURNAROUND TIME
PNPAN Peripheral Neuropathy Expanded Panel by Next-Generation Sequencing 10 weeks
PMP22 PMP22, Peripheral Neuropathy, FISH (Deletion/Duplication) 7 days
HMSNP Hereditary Motor and Sensory Neuropathy Panel by Next-Generation Sequencing (NGS) 10 weeks
HMNP Hereditary Motor Neuropathy Panel by Next-Generation Sequencing (NGS) 10 weeks
HSNP Hereditary Sensory/Autonomic Neuropathy Panel by Next-Generation Sequencing (NGS) 10 weeks
HSPP Hereditary Spastic Paraplegia Neuropathy Panel by Next-Generation Sequencing (NGS) 10 weeks
MSNP Metabolic or Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS) 10 weeks
COMPREHENSIVE EVALUATION
PHENOTYPE-SPECIFIC EVALUATIONS
MC2775-99rev0417
@mayocliniclabs/mayocliniclabsnews.mayomedicallaboratories.commayomedicallaboratories.com
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EXPERTISE AT MAYO CLINIC
Our boardcertified laboratory directors in
collaboration with clinical neurologists and
genetic counselors at Mayo Clinic provide
expertise in molecular genetic testing for
inherited peripheral neuropathies.
FOR MORE INFORMATION ABOUT HEREDITARY PERIPHERAL NEUROPATHIES, VISITMayoMedicalLaboratories.com/HPN
CO-DIRECTORS1 MATTHEW FERBER, PH.D.2 KEVIN HALLING, M.D., PH.D.3 LINDA HASADSRI, M.D., PH.D.4 W. EDWARD HIGHSMITH, JR., PH.D.5 CRISTIANE IDA, M.D.6 SARAH KERR, M.D.7 BENJAMIN KIPP, PH.D.8 ZHIYV NIU, PH.D.9 ANDE RUMILLA, M.D.10 STEPHEN THIBODEAU, PH.D.
CONSULTANT11 CHRISTOPHER KLEIN, M.D.
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CONSULT WITH MAYO CLINIC GENETIC COUNSELORS ABOUT TESTING OPTIONS
Genetic counselors bring real value to proper test utilization by ensuring the most appropriate test has been ordered. On average, Mayo Clinic genetic counselors modify 8% of all reviewed genetic test orders1, reducing health care costs and benefiting patient care.
Mayo Clinic genetic counselors are available to:
} Support the ordering process.
} Provide additional information about testing options.
} Offer results interpretation.
} Assist with case review and coordination.
1. Kotzer KE, Riley JD, Conta JH, et al. Genetic testing utilization and the role of the laboratory genetic counselor. Clin Chim Acta 2014;427:193-195.