Rare Disease Testing#64
Autism Spectrum Disorder Genetic Panel
Gene panel for syndromic and selected monogenic autism-related conditions.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#13
Chromosomal Microarray Analysis
Detects clinically significant copy number variants.
العينةSampleBloodالمدة المتوقعةTurnaround21 يومdays
Rare Disease Testing#62
Epilepsy Genetic Panel
Gene panel for inherited or early-onset epilepsy.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#12
Fragile X - FMR1 CGG Repeat Analysis
FMR1 CGG repeat sizing for Fragile X syndrome assessment.
العينةSampleBloodالمدة المتوقعةTurnaround14 يومdays
Rare Disease Testing#67
Inherited Metabolic Disorders Panel
Gene panel for inherited metabolic conditions.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#63
Intellectual Disability and Developmental Delay Panel
Gene panel for neurodevelopmental disorders.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#60
Mitochondrial Genome Sequencing
Sequencing of mitochondrial DNA for suspected mitochondrial disorders.
العينةSampleBlood / Buccal Swabالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#9
MTHFR C677T/A1298C Mutation Test
Detects common MTHFR variants C677T and A1298C.
العينةSampleBlood / Buccal Swabالمدة المتوقعةTurnaround7 يومdays
Rare Disease Testing#61
Neuromuscular Disorders Panel
Gene panel for muscular dystrophy, myopathy, neuropathy and related disorders.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#66
Primary Immunodeficiency Panel
Gene panel for inherited immune deficiency disorders.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#65
Skeletal Dysplasia Panel
Gene panel for inherited skeletal dysplasias.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround30 يومdays
Rare Disease Testing#59
Trio Whole Exome Sequencing
Exome sequencing for child and both parents to support variant interpretation.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround45 يومdays
Rare Disease Testing#14
Whole Exome Sequencing
Exome sequencing for suspected inherited disease.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround45 يومdays
Rare Disease Testing#58
Whole Genome Sequencing
Genome sequencing for suspected genetic disease where broad analysis is required.
العينةSampleBlood / Salivaالمدة المتوقعةTurnaround60 يومdays