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Index of website | About NIRMAN | Data of Our Institute | Services available | Neonatal Screening for IEM | Critically ill newborn | IEMs in Newborns | Arthrogryposis | Recurrent Spontaneous Abortions | Toxoplasma Infection | Non Immune Hydrops Fetalis | Maternal Metabolic Disorders | SIDS ( Sudden Infant Death Syndrome ) | Mentally challenged child | Autistic child


Services available

Following is a small list of tests available with us either done at our laboratory itself or through our international collaboration with other highly specialised laboratories.

1. Clinical evaluation :-
a. Paediatrician's assessment
b. Paediatric Geneticist's opinion
c. Paediatric Neurologist's consultation
d. Clinical Psychologist's evaluation
e. Audiology assessment and speech therapist's opinion
f. Neuro Developmental Assessment
g. Ophthalmic evaluation
h. Genetic Counselling
i. Home Bound Training Programme for mentally handicapped children.
j. speech Therapy
k. Neurodevelopmental Physiotherapy ( NDPT )
l. Remedial therapy for children with learning disorders.

2. Biochemical evaluation :-

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Biochemical Investigations

a. Urine Routine Metabolic Screening Tests ( MRST )
b. Thin Layer Chromatographies - ( TLC )
1. Aminoacids - Plasma / Urine / CSF
2. Organic Acids
3. Sugars
c. Plasma Ammonia , Lactate , Puruvate
d. Arterial Blood Gases , Sr. Electrolytes
e. Anion Gap
f. Blood sugar and acetone levels
g. Liver function tests
h. Renal function tests
i. Sr. Uric Acid & Sr. Proteins
j. Sr. Lipid Profile
k. Sr. CAlcium , Magnesum , Phosaphates
l. Sr. Alkaline & Acid Phosphatses
m. Renal Tubular Dysfunction Studies
n. Gas Chromatography & Mass Spcetrometry ( GC / MS )
o. Double Mass Spectrometry ( MS / MS )
p. H.P.L.C. aminoacids
q. Heavy metals in urine and blood - Lead , Copper , Zinc , Iron , Mercury , Cadmium
r.Quantitative Estimation of Phenylalanine , Homocystein , Galactose in blood.

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Chromosome Studies and Semen Analaysis

Chromosome studies in Blood , Bone Marrow , Amniotic fluid or Chorion Villous Biopsy material can be done.

Chromosome analysis can also be performed on abortus material and placental tissues.

Semen analysis and semen wash and preparation for Intra Uterine Insemination .

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Hormonal and Immunological studies

a. T3 , T4 , TSH , Thyroid Antibodies
b. FSH , LH , Esteron , Progesteron , Prolactin Terstosteron
c. 17 OHP , Cortisol
d. Sr. Insulin and C peptide
e. Human Growth Hormones and IGF 1
f. Beta H.C.G. , Estriol
g. Alfa Feto Proteins , Triple Marker studies and risk analysis
h. Sr. A.C.T.H., Renin levels
i. TORCH titre
j. Chlamydia Antibodies ( Ig G & Ig M )
k. HIV , Australi Ag, and VDRL
l. Anticardiolipin Antibodies ( Ig G / M / A )
m. Sr. Immunoglobulin levels ( Ig G / M / A )
n. Antisperm Antibodies
o. Antinuclear antibodies
p. Antimitochondrial antibodies
q. Gal - 1 - PUT enzymes
r. Biotinidase enzyme
s. Alpha - 1 - Antitrypsin
t. Sr. Ceruloplasmin level
u. Lysosomal enzymes e.g. Hexosaminidase , Galactosidase

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Molecular Genetic Studies

a. Duchenne Muscular Dystrophy
b. Spinal Muscular Atrophy
c. Mitochondrial Dystrophy
d. Myotonic Dystrophy
e. Huntington's Chorea
f. M.C.A.D. Mutation
g. Achondroplasia
h. Apert's Syndrome
i. Cystic Fibrosis
j. Alfa - 1 - Antitrypsin Def.
k. Haemoglobinopathy