Chromosomal analysis determining the position and distance between genes on chromosomes. Assessment uses recombination frequency analysis, cytogenetic techniques (karyotyping, FISH), radiation hybrid mapping, and sequence-based mapping. Identifies structural chromosomal abnormalities, gene arrangement, and genetic linkage patterns useful for understanding inherited conditions.

Next-generation sequencing of all protein-coding regions (exons) representing approximately 1-2% of the genome but containing ~85% of known disease-causing variants. Screens over 5,000 genes associated with inherited diseases. Analyzes single nucleotide variants (SNVs), small insertions/deletions (indels). Results identify pathogenic variants and variants of uncertain significance, providing diagnostic information for suspected genetic disorders.

Complete sequencing of entire genome (all 3 billion base pairs of DNA). Detects single nucleotide variants (SNVs), insertions/deletions (indels), copy number variations (CNVs), structural variants. PCR-free methodology reduces bias. Identifies variants associated with rare diseases, neurodegenerative disorders, pharmacogenetic markers, and provides comprehensive genetic risk assessment. Includes detection of Spinal Muscular Atrophy (SMA) deletions and GBA1 variants associated with Gaucher disease and Parkinson’s disease risk.