1μg ChrMT m.1555 A>G Ref Std Hereditary Deafness

Product Overview

The 1μg ChrMT m.1555 A>G Reference Standard for Hereditary Deafness is a highly characterized reference material designed for validating and calibrating genetic testing workflows targeting mitochondrial-associated hearing impairment. It specifically encodes the m.1555 A>G mutation in the mitochondrial 12S rRNA gene—a well-documented genetic driver of both nonsyndromic sensorineural deafness and aminoglycoside-induced hearing loss. With a precise 1μg formulation, this reference standard offers exceptional homogeneity and stability, adhering to ISO 9001 and ISO13485 international standards. It serves as a gold-standard control for laboratories conducting mutation screening, diagnostic validation, and research on hereditary hearing disorders worldwide.

Core Characteristics

Target mutation: ChrMT m.1555 A>G (mitochondrial 12S rRNA gene substitution)

Formulation: 1μg lyophilized powder in RNase/DNase-free vial

Certification: Compliant with global genetic testing quality standards

Application scope: Clinical diagnostics, pharmaceutical safety screening, academic research

Product Benefits

Specificity for Clinical Relevance

This reference standard is engineered to specifically target the m.1555 A>G mutation, the most prevalent mitochondrial defect linked to inherited deafness. It eliminates cross-reactivity with other hearing-related genes, ensuring accurate validation of diagnostic assays for both congenital and late-onset hearing impairment.

Reliable Stability and Batch Consistency

Manufactured under strict quality control, the product maintains stability for 36 months when stored at 2-8°C. Each batch undergoes comprehensive sequencing and purity testing, guaranteeing minimal batch-to-batch variation—critical for long-term research projects and clinical lab quality assurance.

Multifunctional Support for Diverse Workflows

It seamlessly integrates with PCR, restriction enzyme screening, and next-generation sequencing (NGS) platforms. Whether calibrating detection systems, verifying assay sensitivity, or validating new testing protocols, this standard delivers consistent, traceable results that meet regulatory requirements.

Clinical Decision-Making Value

By enabling accurate detection of the m.1555 A>G mutation, the standard supports pre-therapeutic screening for aminoglycoside antibiotics. It helps identify patients at risk of drug-induced hearing loss, adding a vital layer of safety to antibiotic treatment regimens.

Usage

Application Areas

Clinical diagnostic laboratories: Validate hereditary deafness screening assays

Pharmaceutical companies: Assess drug safety for aminoglycoside-based medications

Academic institutions: Study mitochondrial genetics and hearing disorder mechanisms

Regulatory agencies: Standardize mutation testing quality across facilities

Recommended Operation Steps

Reconstitute the 1μg lyophilized powder with 100μL RNase/DNase-free water to prepare the stock solution.

Dilute the stock to the desired concentration (1-10 ng/μL) based on your assay requirements.

Use as a positive control alongside patient samples in PCR or NGS workflows.

Compare results against the provided Certificate of Analysis (COA) for validation.

Storage and Handling

term storage: 2-8°C in a dry, dark environment (avoid repeated freeze-thaw cycles)

Transportation: Ship on ice packs to maintain stability below 2-8°C

Why Choose Us

Globally Recognized Certification

Our reference standard is certified to ISO 9001 and ISO13485, ensuring international acceptance for clinical and research applications. Each batch comes with a detailed COA including sequencing data, purity analysis, and stability verification.

Clinically Validated Performance

Developed based on clinical data from over 132 hereditary deafness patients, the standard reflects real-world mutation characteristics. It has been validated in collaboration with leading audiogenetics laboratories to ensure diagnostic relevance.

Customer-Centric Support

We offer technical assistance from genetic testing experts to help optimize your workflow. Custom formulations and bulk ordering options are available to meet specific laboratory needs.

Traceable Quality Control

Every production step is documented with full traceability, from raw material sourcing to final packaging. Our in-house quality control team conducts rigorous testing to ensure purity (>99%), absence of contaminants, and mutation accuracy.

FAQ

What is the shelf life of the product?

When stored as recommended (2-8°C, unopened), the product maintains full functionality for 36 months from the manufacturing date.

Is this standard compatible with qPCR workflows?

Yes, it is fully compatible with qPCR, conventional PCR, and NGS platforms. It is optimized for use with common hereditary deafness testing kits and can be used to generate standard curves for quantitative analysis.

Does the product contain genomic DNA contaminants?

No. Each batch undergoes strict purification to remove genomic DNA, RNA, and protein contaminants. The COA includes contamination testing results to confirm purity.