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Poster Icon   Scientific Poster
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping
This poster demonstrates that whole genome optical mapping offers a promising alternative method for FSHD1 diagnosis that is less time consuming and more accurate in estimate the number of D4Z4 units than the conventional southern blotting technique, Optical mapping could not detect rearrangements between 4q35 and 10q26 D4Z4 repeats.
Poster Icon   Scientific Poster
Measuring of Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)
This poster highlights increased specificity between MPS I and MPS II disease subtypes from measuring a characteristic fragment of accumulated GAGs compound.
Poster Icon   Scientific Poster
Newborn Screening Second Tier Molecular Testing is Critical for Identifying True Positives in Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy
This poster demonstrates analysis of sequencing data reflexed from positive NBS of MPS I, Pompe disease and Krabbe disease and X-ALD, calculated positive rate of different genotypes including affected, carrier, pseudodeficiency and uncertain significance. NBS second tier molecular testing is becoming- one of the most economic and efficient approach to improve clinical outcomes.
Product Info Icon   Product Info
Installation Notes: ssDNA 7K Assay File (Rev C)
ssDNA-7K-ReadMe-RevC
Product Info Icon   Product Info
Installation Notes: FFA-120 Assay File (Rev C)
FFA120-ReadMe-RevC
Form Icon   Form
Roadmap2Rare Diagnostic Requisition - Muscle Disorders
This is a form for Roadmap2Rare Diagnostic Requisition - Roadmap2Rare Diagnostic Requisition - Muscle Disorders
Form Icon   Form
Roadmap2Rare Diagnostic Requisition - Cardiomyopathy
This is a form for Roadmap2Rare Diagnostic Requisition - Cardiomyopathy
Form Icon   Form
Roadmap2Rare Diagnostic Requisition - Lysosomal Storage Disorders
This is a form for Roadmap2Rare Diagnostic Requisition - Roadmap2Rare Diagnostic Requisition - Lysosomal Storage Disorders
Poster Icon   Scientific Poster
Measurement of Nicotinamide Adenine Dinucleotide from Dried Blood Spot Cards
This poster shows the efficiency of chemically treated DBS cards providing acceptable stability allowing reasonable shipping conditions and potential for sample batching within the laboratory.
Application Note Icon   Application Note
Download your application note on nuclear receptor ligand identification with HTRF
This application note illustrates the use of HTRF PPI reagents to easily build robust and convenient biochemical NR/CoA recruitment assays.
Product Info Icon   Product Info
LabChip GX/GXII Software Release Notes
LabChipGXTouch-ReleaseNotes
Product Info Icon   Product Info
Whole Exome and Whole Genome Sequencing - Secondary Findings - ACMG Incidental Findings
Flyer contains gene list for ACMG recommended secondary findings- Whole exome sequencing test.
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