LYSOSOMAL STORAGE & PEROXISOMAL DISORDERSADVANCING A NEW STANDARD OF CARE FOR NEWBORN SCREENING

L A B O R A T O R Y G E N E T I C S 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

FEATURED TESTS} Lysosomal Storage Disorders and X-ALD Newborn

Screen, Blood Spots (Mayo ID: LDALD)

} Lysosomal Newborn Screen, Blood Spots (Mayo ID: LSD6)

CHANGING RECOMMENDATIONS FOR NEWBORN SCREENINGThe recommendations and legislation surrounding newborn screening are constantly in flux. New

disease treatments or new laboratory technologies often prompt additional recommendations for

screening. Although each state is responsible for creating and overseeing its own newborn screening

program, national recommendations from the U.S. Secretary of Health and Human Services are

intended to guide the development of these programs. The Recommended Universal Screening Panel

(RUSP) includes 34 primary conditions and more than 25 secondary conditions. The most recent

additions to the panel include disorders that are categorized as lysosomal storage and peroxisomal

disorders. An increasing number of states have already passed or proposed legislation requiring

screening for one or more of these disorders, although only a handful have implemented screening.

WHAT ARE LYSOSOMAL STORAGE AND PEROXISOMAL DISORDERS?

Lysosomal storage disorders (LSDs) are a diverse group of inherited diseases where macromolecules accumulate across the lysosomal membrane due to defects in the macromolecules’ transport mechanisms or due to defective lysosomal enzyme function. Peroxisomal disorders include disorders of peroxisomal biogenesis and single peroxisomal enzyme/transporter defects. Both types of disorders have clinically diverse phenotypes and range in severity from death during infancy to milder later onset variants. Included in this group of disorders are the following:

} Gaucher Disease} Pompe Disease} Krabbe Disease} Fabry Disease} Niemann-Pick Disease Types A & B (NPAB)} Mucopolysaccharidosis Type 1 (MPS-I)} X-Linked Adrenoleukodystrophy (XALD)

Mayo Medical Laboratories offers two screening assays to detect lysosomal storage and peroxisomal disorders. Both screening assays use tandem mass spectrometry to measure the activity of six enzymes each associated with a lysosomal storage disorder. One of the screening assays, LDALD, also detects four lysophosphatidylcholines, which are associated with XALD. These screening tests also include several disease-specific second-tier assays that are performed when the primary screening test yields an abnormal result. The rationale of this approach is to increase the positive predictive value of screening, thereby reducing unnecessary follow-up cost and anxiety caused by false positive results.

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L Y S O S O M A L S T O R A G E & P E R O X I S O M A L D I S O R D E R S

A NEW STANDARD OF NEONATAL CARE

With the recent updates to the RUSP and newly passed legislation in many states, gaps exist between the screening required by state law or recommended by the federal RUSP and the screening provided by state health departments. Nevertheless, with the addition of new conditions to the RUSP, health care providers may wish to meet this new standard of care as soon as possible. Mayo Medical Laboratories’ newborn screening tests are specifically designed to help a hospital supplement the screening already provided by its state’s health department. Adding one of Mayo Medical Laboratories’ screening panels ensures that newborns receive the highest quality of care within your health care organization.

The most recent additions to the panel include Pompe disease, MPS-I and XALD. In addition to these conditions, four other LSDs have been added or are being considered for newborn screening programs, including Krabbe disease, Fabry disease, Gaucher disease, and Niemann-Pick disease types A and B (NPAB). With the exception of NPAB, disease-specific therapies are now available for these disorders. Evidence has shown that best outcomes are achieved when treatment is initiated early in life, preferably before the onset of clinical symptoms.

COMPREHENSIVE FOLLOW-UP

Positive newborn screening results require prompt follow-up to confirm a diagnosis and plan a course of clinical care and treatment. The Mayo Clinic Biochemical Genetics Laboratory offers a comprehensive test menu for lysosomal storage and peroxisomal disorders. Our test menu includes traditional enzyme activity assays, novel biomarker testing, and molecular analysis, including full-gene sequencing, mutation analysis, and known mutation testing.

LYSOSOMAL STORAGE & PEROXISOMAL DISORDERS NEWBORN SCREENING IN THE UNITED STATES

AS O F MARC H 2016

ImplementedLegislation*

PassedLegislation

ProposedLegislation

* Screening has been implemented for one or more disorders.

MC2775-108rev0716

@mayocliniclabs/mayocliniclabsnews.mayomedicallaboratories.commayomedicallaboratories.com

TAP INTO THE EXPERTISE OF MAYO CLINIC

The Mayo Clinic Biochemical Genetics

Laboratory is an interdisciplinary group of

physicians, scientists, genetic counselors,

and laboratory professionals that includes six

laboratory directors and four genetic counselors

specializing in newborn screening and diagnostic

testing for inborn errors of metabolism. This

team provides testing and result interpretation of

the highest quality for the diagnosis and clinical

care of patients with inborn errors of metabolism

and has a long track record of innovative test

improvement and test development to achieve

newborn screening with the highest sensitivity

and specificity, paying particular attention to

reducing false positive rates. Offering one of the

most comprehensive test menus for inborn errors

of metabolism, more than 150 qualitative and

quantitative genetic assays are available

for newborn screening, diagnosis, and

treatment monitoring.

FOR MORE INFORMATION ABOUT NEWBORN SCREENING, VISITMayoMedicalLaboratories.com

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GENETIC COUNSELORS7 APRIL STUDINSKI JONES, MS, CGC8 GESSI BENTZ PINO, MS, CGC9 AMY WHITE, MS, CGC10 LINDSAY ZETZSCHE, MS, CGC

LABORATORY DIRECTORS1 DIMITAR GAVRILOV, M.D., PH.D.2 DIETRICH MATERN, M.D., PH.D.3 DEVIN OGLESBEE, PH.D.4 KIMIYO RAYMOND, M.D.5 PIERO RINALDO, M.D., PH.D.6 SILVIA TORTORELLI, M.D., PH.D.