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Genotyping Validation

Genotyping Validation

Resolve Full-Length Alleles with Confidenc

Overview

Genotyping Validation is a full-length amplicon sequencing service for targeted genotyping of single-clone samples. Designed for PCR amplicons from 100 bp to 25 kb, the service provides full-length allele sequences to identify WT and edited alleles, characterize indels and other variants, and resolve complex genotypes through long-read sequencing. Both purified and unpurified PCR products are accepted, with cleanup performed before library preparation. The service is intended for single-clone validation and is not designed for pooled or bulk-edited populations.


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What Is Genotyping Validation Used For?


Gene-Edit Clone Validation
Complex Genotype Resolution
Full-Length Variant Phasing
Genotype-Based Sample Stratification

Confirm the genotype of gene-edited clones and identify WT and edited allele sequences.


Resolve multiple allele sequences in cancer cells, polyploid or aneuploid samples, and amplified loci.


Link SNPs, indels, insertions, deletions, and multiple edits to specific full-length allele sequences.


Classify samples by resolved genotype or allele sequence for downstream genotype–phenotype analysis.


Need help with a custom order?

Workflow

Our genotyping sequencing service accepts customer‑supplied PCR products, both purified and unpurified, for downstream processing. Samples undergo library preparation and long‑read sequencing to obtain full‑length sequence information. The bioinformatics pipeline clusters haplotypes and applies built‑in filtering rules to deliver final allele‑level genotyping results.

Services



Service

Size

Read Target

Alleles Reported

Sample Type

Price +

Turnaround Time*

Basic

100bp-25kb

Up to 1K reads

Up to 3

Unpurified PCR Product;

Purified PCR Product

$10   $5

1 Day

Standard

Up to 4K reads

Up to 6

$30   $25

1 Day

Plus

Up to 8K reads

Up to 12

$60   $55

1 Day

Huge

Up to 16K reads

Up to 24

$120   $115

1 Day

 

*Your project clock starts once we receive your samples.

+ Promotion Price


Service Specifications​

FAQ

How is a reported allele defined in this service?

A reported allele is a unique full‑length amplicon haplotype reconstructed from clustered sequencing reads, representing one sequence variant at the target locus.

Important note: Reported alleles do not map one‑to‑one to inherited chromosomal copies. Multiple genomic copies with identical sequences will collapse into one single reported allele. The number of reported alleles cannot be used to infer genomic copy number.

What is the five‑percent reporting cutoff?

This service applies a 5% reporting cutoff. Haplotypes require ≥5% of supported reads to become eligible for reporting. 

Important note: Passing the 5% threshold is only one eligibility criterion. Final output is further constrained by maximum allele tier‑limit and QC filters. Meeting 5% does not guarantee reporting. Real low‑abundance alleles below 5% read fraction will be omitted even if present in raw sequencing data. Reported frequencies are approximate read‑based fractions. PCR read fractions cannot be used to infer genomic copy number.

What factors may cause allele dropout or spurious alleles?

Alleles may be missed if primer‑binding sites are deleted and target fails to amplify. Non‑specific PCR products may be mis‑identified as spurious alleles. Only variants within the submitted amplicon are analyzed.

What results are delivered, and what analysis is not supported?

Deliverables include full‑length allele sequences, estimated allele frequencies (%), and supporting read counts. Absolute genomic copy‑number calling is not supported. Alleles below 5% read fraction are not reported.

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