Institute Of Medical Research

Galactosemia Screening

Specimen / Volume: Dried Blood Spot, 3 Circles Minimum

Container: Whatmann 903 Filter Paper

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Note 2: Refer this guide for blood spot collection procedure

Biotinidase Enzyme Activity

Specimen / Volume: Dried Blood Spot, 3 Circles Minimum

Container: Whatmann 903 Filter Paper

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Note 2: Refer this guide for blood spot collection procedure

Urine Metabolic Screening

Specimen / Volume: Urine, Minimum 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Amino Acid, CSF

Specimen / Volume: CSF, Minimum 1 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Amino Acid, Plasma

Specimen / Volume: Blood, 2 mL

Container: Heparin Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Collect the sample at least 4 hours after meal and send to the lab immediately for plasma preservation (centrifuge and freeze)

Note 2: Specialist signature is required

Amino Acid, Urine

Specimen / Volume: Urine, Minimum 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Prior consultation with IMR Lab is required

Note 2: Specialist signature is required

Homocysteine, Total

Specimen / Volume: Blood, Minimum 2 mL

Container: EDTA Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Orotic Acids

Specimen / Volume: Urine, Minimum 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

S-Sulphocysteine

Specimen / Volume: Urine, Minimum 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Carnitine, Total and Free

Specimen / Volume: Blood, 2 mL

Container: Heparin Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Carnitine, Urine

Specimen / Volume: 24-Hour Urine, as per collection

Container: 24-Hour Urine Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: By consultation with IMR Lab only. Please contact 03-26162794/2640/2637

Note 2: Specialist signature is required

Organic Acids, Urine

Specimen / Volume: Urine, Minimum 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Organic Acids (Forensic only)

Specimen / Volume: Blood, 1 mL and Vitreous Humor, 2 mL

Container: EDTA Tube / Heparin for blood & Universal Container for Vitreous Humor

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: By consultation with IMR Lab only. Please call 03-26162640/2511

Pterins

Specimen / Volume: CSF, Minimum 1 mL

Container: Special Micro Tube with Preservative EDTA & DTE (provided by IMR)

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Consultation with HDOK lab prior sampling for micro tube availability

Note 2: Please wrap the tube with aluminum foil to protect from light and freeze immediately

Note 3: Specialist signature is required

Biogenic Amines, Screening

Specimen / Volume: Urine, Minimum 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Please wrap the tube with aluminum foil to protect from light and freeze immediately

Note 2: Specialist signature is required

Biogenic Amines

Specimen / Volume: CSF, Minimum 2 mL

Container: Bijou Bottle

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Peroxisomal Disorder Profile: Very Long Chain Fatty Acid (VLCFA),Phytanic Acids

Specimen / Volume: Blood, 2 mL

Container: EDTA Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Pipecolic Acid

Specimen / Volume: Blood, Minimum 2 mL

Container: Heparin Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Please collect at least 4 hours after meal

Note 2: Specialist signature is required

LSD Screening

Specimen / Volume: Dried Blood Spot, 3 Circles Minimum

Container: Whatmann 903 Filter Paper

TAT: 30 Days

Location: IMR

SSpecial Form: IEM REQUEST FORM

Note: Specialist signature is required

Note 2: Refer this guide for blood spot collection procedure

Acid -Glucosidase (POMPE), Blood Spot

Specimen / Volume: Dried Blood Spot, 3 Circles Minimum

Container: Whatmann 903 Filter Paper

TAT: 30 Days

Location: IMR

Special Form: ENDOCRINE REQUEST FORM

Note: Specialist signature is required

Note 2: Refer this guide for blood spot collection procedure

Mucopolysaccharides (Screening of GAGs/HRE)

Specimen / Volume: First Morning Urine, Minimum 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Oligosaccharide

Specimen / Volume: First Morning Urine, Minimum 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Sialic Acid, Total & Free

Specimen / Volume: First Morning Urine, Minimum 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Mucopolysaccharidoses Enzyme Assay Panel Test

Specimen / Volume: Blood, 6 mL

Container: EDTA Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Prior consultation with IMR Lab is required

Note 2: Appointment with HDOK Lab is mandatory to facilitate sample arrival at IMR within three days of collection

Note 3: Specialist signature is required

Lysosomal storage Disorder Enzyme Assay Panel Test:

Specimen / Volume: Blood, 6 mL

Container: EDTA Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Prior consultation with IMR Lab is required

Note 2: Appointment with HDOK Lab is mandatory to facilitate sample arrival at IMR within three days of collection

Note 3: Specialist signature is required

5-Hydroxy-Indole-Acetic Acid (5-HIAA)

Specimen / Volume: 24-Hour Urine, as per collection

Container: 24-Hour Urine Container with 10 mL 25% HCL

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Argininosuccinic Acid

Specimen / Volume: Urine, 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Creatine & Guanidino Acetate, Urine

Specimen / Volume: Urine, 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Creatine & Guanidino Acetate, Plasma

Specimen / Volume: Blood, 1 mL

Container: EDTA Tube / Heparin Tube

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Creatine & Guanidino Acetate

Specimen / Volume: Dried Blood Spot, 3 Circles Minimum

Container: Whatmann 903 Filter Paper

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Specialist signature is required

Note 2: Refer this guide for blood spot collection procedure

Cystine & Homocystine

Specimen / Volume: Urine, 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Delta-Amino Levulinic Acids (Delta ALA)

Specimen / Volume: Random Urine, 5 mL or 24-Hour Urine, as per collection

Container: Universal Container or 24-Hour Urine Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note 1: Please wrap the tube with aluminum foil to protect from light and freeze immediately

Note 2: Specialist signature is required

Lysine Metabolism Profile

Specimen / Volume: Urine, 2 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Myoglobin & Hemoglobin

Specimen / Volume: Urine, 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Porphyria Profile:Porphyrin Porphobilinogen

Specimen / Volume: Urine, 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Succinylacetone

Specimen / Volume: Urine, 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required

Sugar & Polyols

Specimen / Volume: Urine, 5 mL

Container: Universal Container

TAT: 30 Days

Location: IMR

Special Form: IEM REQUEST FORM

Note: Specialist signature is required