NeoMass AAAC is used with Tandem Mass Spectrometry to detect concentrations of amino acid, free carnitine, acylcarnitines, succinylacetone

Amino acid Internal

and argininosuccinic acid.

Elution peaks of Phe

Elution peaks of C4

4

Increasing analyte concentration

n(patients) Unique for NeoMass

Cut Off

endogenous

• 4 of steps: Punch, Extraction, Transfer, Injection into MS/MS

• Sample extraction without derivatization

• 4 sets of Isotope labelled internal Standards: 15 Amino Acids + 13 (Acyl) Carnitines +

SUAC (Tyrosemia type-1) + ASA (Argininosuccinic Acidemia)

• 3 Dried Blood Spot Controls framing the decisional cut-off area for each of the matching internal standards

• Turnaround time for 96 samples approximatively 3 hours

• High specificity and sensitivity by MS/MS detection

• Validation for multiple instrument applications

• Final concentrations calculated based on accurate peak area ratios compared to only peak intensities

ratios

Abnormals

Patented innovation by Labsystems Diagnostics

NeoMass AAAC innovation enables detection of all urea cycle deficiencies, including proximal abnormalities along with classical distal deficiencies measurements

The urea cycle is a metabolic pathway occurring in the liver and kidney. Ammonia, a product of protein metabolism, is removed from circulating blood through urea cycle by conversion into urea and its elimination in urine. Urea Cycle Disorders (UCD) occurs in some inborn errors of metabolism, resulting in accumulation of nitrogenous waste which leads to vomiting, increasing lethargy, seizures, hypotonia, respiratory distress, coma, and to death if untreated. Protein restriction is the mainstay of therapy for the management of urea cycle defects.

Unique Properties of NeoMass AAAC kit – detection of OTC, CPS1 and NAGS deficiencies

Deficiencies of enzymes in the proximal part of the urea cycle have been challenging to detect in the past but the patented innovation in the new NeoMass AAAC kit changes this. As a first in the world achievement, Labsystems Diagnostics has established a methodology to measure OTC, CPS1 and NAGS deficiencies on dried blood spots along with the traditional detection of ASS, ASL and ARG1 enzyme deficiencies. NeoMass AAAC for tandem MS will therefore enable detection of all urea cycle abnormalities.

6

Now featured with NeoMass AAAC – detection of Urea Cycle Disorders (UCDs)

Mitochondria,proximalurea cycle

Cytosol,distal urea cycle

Acetyl-CoA + Glutamate

Carbamyl phosphateNH4+ + HCO3

-

UREAAspartate

(Arginase)

Arginine

Fumarate

Argininosuccinate

(Argininosuccinatelyase)

(Argininosuccinatesynthetase)

+

Ornithine Cittrulline

Mitochondrion

Blood Liver / Kidney

Ornithine citrullineantiporter

URINE

NAGS

Glutamine NH3 + HCO3-

NAG

CPS1

GLNase

OTC

• N-Acetylglutamate Synthase (NAGS) Deficiency

• Carbamyl Phosphate Synthetase (CPS) Deficiency

• Ornithine Transcarbamylase (OTC) Deficiency

• Ornithine Translocase Deficiency (HHH) Syndrome

• Argininosuccinate Synthetase (ASS) Deficiency (Citrullinemia I)

• Citrin Deficiency (Citrullinemia II)

• Argininosuccinate Lyase (ASL) Deficiency(Argininosuccinic Aciduria)

• Arginase Deficiency (ARG1) (Hyperargininemia)

New Proximal urea cycle deficiencies

Traditional – distal urea cycle deficiences

Newborn Screening Products

REAGENTS

Cat. No Product name Plate type Pack size

7100100

6199821

6199831

6199832

6199850

6199851

6199860

6199861

6199870

6199871

6199872

6199880

6199882

6199883

6199896

Solid

Solid

Solid

Strip

Solid

Solid

Solid

Solid

Strip

Solid

Strip

Solid

Strip

Strip

Solid

960

960

960

960

960

480

960

480

480

960

960

960

480

960

Detection Method

MS/MS

960

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Fluorescence

Neomass AAAC

Neonatal Biotinidase

Neonatal IRT FEIA

Neonatal IRT FEIA

Neonatal Galactose

Neonatal Galactose

Neonatal G6PD

Neonatal G6PD

Neonatal 17-OH-Progesterone FEIA

Neonatal 17-OH-Progesterone FEIA

Neonatal 17-OH-Progesterone FEIA

Neonatal hTSH FEIA

Neonatal hTSH FEIA

Neonatal hTSH FEIA

Neonatal Phenylalanine (PKU)

Labsystems Diagnostics OyTiilitie 3, 01720 Vantaa, Finland.

E : sales@labsystemsdx.com | P : +358 20 155 7530 | W : www.labsystemsdx.com

For more information, please contact sales@labsystemsdx.com, logistics@labsystemsdx.com

INSTRUMENTS

Cat. No Product name Plate type Pack size

5400200

5450100

5550400

5550300

5420211

5112251

5410211

5410300

Instrument

Instrument

Instrument

Instrument

Instrument

Instrument

Instrument

Instrument

1

1

1

1

1

1

1

1

Neonatal Screening Automate

Neonatal DBS Puncher

Neonatal Disc Remover NS96 (110 V)

Neonatal Disc Remover NS96 (220 V)

NS Microplate Washer

NS Microplate Incubator Shaker

NS Microplate Fluorometric Reader

NS 200 Multimode Reader