Compare available tests

Congenital Disorders of Glycosylation (CDG)

PMM2/CDG Gene Panels

Catalog role labels reflect current assignments. Test choice, timing and prices require clinician or laboratory confirmation.

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Nationwide & Home Sample Collection

Test comparison

36 tests

All diagnostic topics

Available tests, sample type, turnaround time, price and booking options
Test name	Test role	Sample type	Turnaround	Price
COG4 Gene Glycosylation Disorder Type 2J Genetic Test	First-line screen	Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card. Confirm specific requirements with the laboratory before booking.	4 Weeks Approximately 3 to 4 weeks.	KSh 40,000
TMEM165 Gene Glycosylation Disorder Type 2K Genetic Test	First-line screen	Blood sample (EDTA tube). Confirm specific volume and collection requirements with the laboratory before booking.	Timing on request	KSh 40,000
SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test	First-line screen	Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.	Timing on request	KSh 40,000
COG6 Gene Glycosylation Disorder Type 3 Genetic Test	First-line screen	Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.	Timing on request	KSh 40,000
DDOST Gene Glycosylation Disorder Type IR Genetic Test	First-line screen	Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.	Timing on request	KSh 40,000
SSR4 Gene Glycosylation Disorder Xlinked Genetic Test	First-line screen	Blood sample (EDTA tube). Confirm with the laboratory before booking.	Timing on request	KSh 40,000

First-line screen

COG4 Gene Glycosylation Disorder Type 2J Genetic Test

Sample type: Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround: 4 Weeks Approximately 3 to 4 weeks.
Price: KSh 40,000

First-line screen

TMEM165 Gene Glycosylation Disorder Type 2K Genetic Test

Sample type: Blood sample (EDTA tube). Confirm specific volume and collection requirements with the laboratory before booking.
Turnaround: Timing on request
Price: KSh 40,000

First-line screen

SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test

Sample type: Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround: Timing on request
Price: KSh 40,000

First-line screen

COG6 Gene Glycosylation Disorder Type 3 Genetic Test

Sample type: Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
Turnaround: Timing on request
Price: KSh 40,000

First-line screen

DDOST Gene Glycosylation Disorder Type IR Genetic Test

Sample type: Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround: Timing on request
Price: KSh 40,000

First-line screen

SSR4 Gene Glycosylation Disorder Xlinked Genetic Test

Sample type: Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround: Timing on request
Price: KSh 40,000

Clinical context

Clinical testing guide & how to choose

Tests in Congenital Disorders of Glycosylation (CDG) answer different clinical questions. This catalogue supports a conversation with your clinician or counselor; it does not establish a diagnosis or replace an individual assessment.

Choosing a test

A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation.

Before sample collection

Confirm the required tube, sample volume, any fasting instructions and the collection deadline for your chosen test. Tell the collection team about medication and recent treatment. Do not stop prescribed medication unless your clinician advises it. Home collection depends on the sample’s handling and transport requirements.

Common questions

Questions before booking

Should I choose a panel or a single-marker test for Congenital Disorders of Glycosylation (CDG)?

Can I use SHIF/SHA or private insurance for these tests?

Coverage depends on your scheme, the specific test, referral and authorization requirements, and the provider arrangement. Before booking, ask the laboratory and your insurer to verify eligibility, any co-payment, and whether direct billing or reimbursement applies. Listing a test here does not guarantee insurance coverage.

When should I arrange sample collection?

Check the sample and preparation notes for the specific test, then confirm the collection time and reporting deadline with the laboratory. Same-day reporting, where listed, may depend on a collection cutoff and working days. Nationwide and home sample collection are available subject to location, sample suitability and transport arrangements.

Congenital Disorders of Glycosylation (CDG)

36 tests

COG4 Gene Glycosylation Disorder Type 2J Genetic Test

TMEM165 Gene Glycosylation Disorder Type 2K Genetic Test

SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test

COG6 Gene Glycosylation Disorder Type 3 Genetic Test

DDOST Gene Glycosylation Disorder Type IR Genetic Test

SSR4 Gene Glycosylation Disorder Xlinked Genetic Test

Clinical testing guide & how to choose

Choosing a test

Before sample collection

Questions before booking

May be considered for

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