All Services Rare Disease Diagnostics

Rare Disease Screening.

Early detection of rare genetic disorders through validated LC-MS/MS assays on dried blood spot. When treatment windows are measured in weeks, the speed and accessibility of screening can mean the difference between intervention and irreversible damage.

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Why Early Screening Matters
X-ALD Affects 1 in 17,000 newborns. Without early detection, cerebral demyelination begins before symptoms appear
HSCT Haematopoietic stem cell transplant can halt neurodegeneration — but only if performed before clinical onset
AADC Fewer than 200 cases diagnosed worldwide. Average diagnostic delay exceeds 3 years due to misdiagnosis as cerebral palsy
Upstaza First gene therapy for AADC deficiency approved in 2022 — making early identification more critical than ever
DBS Dried blood spot enables population-scale newborn screening with minimal sample volume and room-temperature transport
6 Validated assays
DBS & Urine Sample types
LC-MS/MS & GC-MS Analytical platforms
<72h Turnaround time
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The Challenge

The Diagnostic Odyssey.

Diagnostic Delay Rare disease patients wait an average of 5–7 years for a correct diagnosis. Many see 7+ specialists before identification.
Misdiagnosis Risk AADC deficiency is commonly misdiagnosed as cerebral palsy, epilepsy, or developmental delay — delaying access to gene therapy.
Irreversible Progression X-ALD causes cerebral demyelination that, once started, cannot be reversed. The treatment window closes before symptoms appear.
Treatment Revolution New gene therapies (Upstaza, Skysona) and HSCT make early detection clinically actionable — screening is no longer academic.
DBS Accessibility Dried blood spot sampling makes population-scale newborn screening feasible — no venipuncture, no cold chain, simple postal logistics.

Available Tests.

LPC-VLCFA

Peroxisomal Disorder Screening

Quantification of very long-chain fatty acid lysophosphatidylcholines (C26:0-LPC, C24:0-LPC, C22:0-LPC) for the detection of X-linked adrenoleukodystrophy and other peroxisomal disorders. LC-MS/MS from dried blood spot.

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3-O-Methyldopa

AADC Deficiency Screening

Measurement of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase (AADC) deficiency — a rare neurotransmitter disorder now treatable with gene therapy. LC-MS/MS from dried blood spot.

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Organic Acids in Urine (OAT)

Organic Aciduria Screening

Qualitative screening of over 200 urinary organic acids for differential diagnosis of inborn metabolic disorders — including organic acidurias (methylmalonic, propionic, glutaric, isovaleric) and amino acid metabolism defects. GC-MS from urine.

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Acylcarnitine Profile

Fatty Acid Oxidation & Organic Aciduria Screening

Quantification of 32 acylcarnitines and qualitative monitoring of 80+ isomers for screening of fatty acid oxidation defects, carnitine transport disorders, and organic acidurias. LC-MS/MS from dried blood spot.

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Amino Acids (IEM Panel)

Amino Acid Metabolism Disorders

Quantification of 28 amino acids for diagnosis of inborn errors including PKU, maple syrup urine disease, tyrosinemia, citrullinemia, and urea cycle defects. LC-MS/MS from dried blood spot.

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Purines & Pyrimidines in Urine

Purine & Pyrimidine Metabolism Disorders

Quantitative and qualitative analysis of purines, pyrimidines, and related metabolites for diagnosis of Lesch-Nyhan syndrome, adenosine deaminase deficiency, and other nucleotide metabolism disorders. LC-MS/MS from urine.

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Partnership

Who We Work With.

Masdiag provides rare disease screening as a reference laboratory service — supporting newborn screening programmes, clinical geneticists, paediatric neurologists, and pharmaceutical partners developing therapies for rare conditions.

Newborn Screening Programmes

Integration of LPC-VLCFA and 3-OMD assays into national or regional newborn screening panels. DBS-based workflow aligns with existing NBS infrastructure.

Clinical Geneticists

Confirmatory and first-line testing for patients presenting with symptoms suggestive of peroxisomal disorders or neurotransmitter deficiencies.

Paediatric Neurologists

Differential diagnosis support for children with unexplained developmental delay, hypotonia, oculogyric crises, or progressive neurological deterioration.

Pharmaceutical Companies

Patient identification and screening support for clinical trials and therapy access programmes in rare disease therapeutics.

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