Parque Tecnológico de BizkaiaEdi�cio 50248160 - Derio (Vizcaya)SPAIN

Tel.: (+34) 944.044.343Fax: (+34) 946.566.628

www.genetadi.com

GENETADI BIOTECH, S.L.

Expanded Heel TestNeonatal Metabolic Disorder Screening

Tandem Mass Spectros-copy (MS/MS)

Product recommended by the Sociedad Española de Errores Innatos del Metabolismo (Spanish Society of Inborn Errors of Metabolism)

SCIENTIFIC BIBLIOGRAPHY• Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias. Pablo Sanjurjo & Antonio Baldellou, (Eds.). (2010) Editorial

Ergon.

• Fingerhut R, Olgemöller B. Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Anal Bioanal Chem. 2009 Mar; 393(5):1481-97.

• McCabe LL, McCabe ER. Expanded newborn screening: implications for genomic medicine. Annu Rev Med. 2008; 59:163-75.

• Spitzer AR, Chace D. Proteomics- and metabolomics-based neonatal diagnostics in assessing and managing the critically ill neonate. Clin Perinatol. 2008 35(4):695-716.

SHIPPING LOGISTICS:

For each test, NEONATAL-ONE kit is avalaible with the necessary material for performing the test and sending it to our laboratory.

The envelope contains:

• Application form (two copies).• Specific card filter paper.• Shipment and payment information.• Procedure for healthcare personnel to collect the sample.• A shipment envelope with the mailing data

• The doctor (or the mother) will send the sample using our courier service giving our client number.

• The results are sent by post and/or e-mail to the address indicated on the application form.

(Optionally, they can also be downloaded from our our website/encrypted.)

Innovation in human genetic diagnosis services and products

Other potentially detectable diseases

• Expanded Dry Blood Neonatal Test: Expanded Heel Test

• Additional screening for the standard performed by the States.

• Analysis of 56 congenital metabolic diseases. (Inborn errors of metabolism)

NEONATAL-ONE ®Expanded Neonatal Screening

LIST OF DISEASES

Carnitina palmitoiltransferase I, defic. Carnitina,Incorporation deficit.Cetoacil-CoA tiolase, cadena media, defic.Citrullinemia type I Citrullinemia type IIEtilmalonica, encephalopathyFenilcetonuriaHidroxiprolinemiaHiperfenilalaninemia (benign variant)HipermetioninemiaHomocistinuriaHomocistinuria-megaloblastica, anemiaIsobutirilglicinuriaMaple syrup disease, Ornitina transcarbamilasa, defic.Palmitoiltransferasa II, defic.Tirosinemia type I Tirosinemia type II Tirosinemia type IIITrifuncional-proteica, defic.

2-Metil-3-hidroxibutirico, aciduriaL-3-Hidroxi-acyl-CoA, short chain, defic.L-3-hydroxi-acyl-CoA, dehydrogenase, defic.L-3-Hidroxi-dehidrogenasa, long chain, defic.Acidemia formiminoglutámicaGyrated retinal atrophyCadena primaria lactica, (varios subtipos) primary lactic chain deficiency (different subtypes)Carbamoiltransferase, defic.Carboxilasa Multiple, defic. Hiperglicinemiano-cetonica Metilcobalamina, defic.Metilen-tetrahidrofolato reductase, defic.Piruvato-carboxilase, defic. Succinil-CoAligasa, defic.Valinemia

ß-cetotiolasa, defic.2,4-Dienoil-CoA reductasa, defic.2-Metilbutirilglicinuria3-Hidroxi-3-methilglutarico, aciduria3-Metilcrotonil-CoA carboxilasa, defic.3-Metilglutaconico, aciduriaAcidemia glutárica,type I Acidemia glutáricatype IIArgininemiaArgininosuccínico, aciduriaBiopterina, desordenes de biosíntesis disordersBiopterina, regeneration disorders of Carnitina acylcarnitinatranslocasa, defic.

NEONATAL-ONE® is a registered brand of Genetadi Biotech

What is NEONATAL-ONE?NEONATAL-ONE is an expanded neonatal screening device (expanded heel test) based on tandem mass spectroscopy technology (MS/MS) that allows detection of 56 congenital metabolic diseases in a dry blood sample.

This test is in addition to the official screenings offered by the health services of each state or region, and so it must always be done jointly. The MS/MS detects the levels of amino acids and acylcarnitines derived from alterations in the metabolism of amino acids, organic acids and fatty acids.

What are metabolic disorders?Congenital metabolic diseases (also known as inborn errors of metabo-

lism [IEM] or congenital metabolic disorders) are a group of rare genetic disorders with which the body is not able to breakdown the nutrients. One out of every four thousand newborns has IEM.Metabolic alterations can appear in the form of disease from a very early age, either due to the lack of necessary substances for the body's operation or due to the accumulation of intermediate products that cannot be processed correctly.If an individual substrates correctly and transform them intosub-products and energy, the following consequences may result: • Intermediate compounds that when accumulated are toxic may appear. • The individual is in physiological need of an essential metabolite that cannot be obtained because of altered metabolic pathway • That the person may lack the energy necessary for the correct functioning of the body

The diseases that can be detected with this test are severe, some even

mortal in some cases; their early identification makes dietetic treatments possible, either by substitution of metabolite that is missing the necessary nutrient or by eliminating the substance that con not be metabolized by the affected person.

The blood is obtained 48 hours after birth, once the child is being feed and his metabolism started.It's important to remember that early detection of the disease significantly contributes towards the effectiveness of the treatment.

How does NEONATAL-ONE work?NEONATAL-ONE identifies and quantifies metabolites that are characteristic of a large number of genetic diseases known as "inborn errors of metabolism." These compounds are identified on a filter paper soaked with a few drops of the baby's blood obtained by a punction on the baby´s heel. The filter with the dry blood is send at room temperature in an urgent postal envelope. Once the laboratory receives the sample, it is analysed within 24 hours and the results are confidentially delivered to the doctor who requested the test.

Who should undergo the NEONATAL-ONE test?All newborns within 15 days of life.

Is the test painful for the baby?No. The procedure of collecting a few drops of blood from the newborn's heel is a well implemented painless procedure that can be considered as a routine.

How are the detected diseases treated?Each disorder is different. Some are treated with a special diet and other with medications. If they are treated early, many children grow up and live a normal healthy life, preventing mental retardation or other serious secondary effects of the accumulation of substrates. In very few cases, it will not be possible to treat the complications completely.Early diagnosis and treatment gives babies the opportunity to have the best development and growth.

How can I obtain additional information?By sending an e-mail to neonatal@genetadi.comBy calling +34-944044343